tl_files/tiny_templates/Bilder TL/Header-sSMC.jpg

- multiple sSMC -

from different CHROMOSOMES derived

References


2
sSMC

3
sSMC

4
sSMC

5
sSMC

6
sSMC

7
sSMC

 

ONLY CASES ARE INCLUDED HERE, WHERE THE ORIGIN OF THE sSMC WAS CHARACTERIZED - CASES DESCRIBED IN PRE-FISH ERA ARE NOT LISTED.

 


References

Cases with sSMC derived from 2 different chromosomes

 

 
  case no. gender/
age at diagnosis
studied
material
de novo/
inherited
GTG-banding result
grade of mosaicism
final result of the sSMC test
methods
clinical symptoms reference  
  mult
2-1
female/
1m
PBL de novo 48,XX,+mar1,+mar2x1-x5[22%]/
47,XX,+mar2x1-x5[78%]
mar1 = r(3)
mar2 =
unknown (not tested werecep2, cep4, cep8, cep15)
FISH with all available centromeric probes delayed development, short stature and microcephaly at age of 7y. {2} case 2  
  ***
mult

2-2
***
chr13
male/
5y
PBL de novo 47,XY,+mar[17]/
46,XY[8]
48,XY,+min(3)(:p12.1q11.2:),
+min(13)(pter
q12.1:)*[9]/
47,XY,+min(3)(:p12.1q12.1:)[16]/
47,XY,+min(13)(pter
q12.1:)[17]/
46,XY[42]
CGH, centromeric probes
M-FISH
see below {3}  
At age of 5y height 44.25 inchers (90th centile), weight 25.5 kg (50th centile), HC 54cm (35th centile); dysmorphic features like flat face, prominent nose, long philtrum, low-set, posteriorly rotated ears, sub mucous cleft, retrognathia, speech delay; developmental delay and hyperactivity
  mult
2-3
male/
4y
PBL de novo 48,XY,+mar1,+mar2[39%]
47,XY,+mar1[23%]/
47,XY,+mar2[20%]
46,XY[17%]
mar1 = r(6),
mar2 = r(9)
D6Z1; cep9 (pMR9A); wcp 6; wcp 9; telomeric probes see below {4}  
uneventful pregancy and delivery, walking at age of 30 months, speech at 3 years; global developmental retardation; some autistic features, broad philtrum, clinodactyly
  mult
2-4
male/
4m
PBL de novo 48,XY,+mar1,+mar2[56%]/
47,XY,+mar1[44%]
mar1 = r(6)
mar2 =r(X)
FISH with all available centromeric probes see below {2} case 3  
delayed development, seizure disorder, microcephaly, dysmorphic features
  mult
2-5
female/
n.a.
PBL n.a. 48,XX,+mar1,+mar2[9]/
47,XX,+mar1[11]
mar1 = mar(6)
mar2 = not identified; satellited?
SKY dysmorphic features, early onset scoliosis, developmental delay, microcephaly {6} case 7  
  mult
2-6
female/
prenatal
AF de novo 48,XX,+2mar[12]/
47,XX,+mar[3]
min(9)(:p11q11:),  min(20)(p11.2q11.1)[16]/ min(9)(:p11q11:)[4] cenM;
subcenM
see below {7} case 34
{19}
 
Amniocentesis due to abnormal triple test results; hygroma colli detected in ultrasound; pregnancy terminated.
  mult
2-7
male/
prenatal
AF de novo 47,XY,+mar[11]/
46,XY[11]
i(10)(:p11.1q11.1:
:p
.or.q11.1q11.1 or p11.1)[15]/
i(10)(pter
q11.21:
:q11.21
pter)x2 (tetraploid mitosis)[2]/
min(18)(p11.1
q11.1)[3]
cenM;
subcenM
see below {7} case 35  
singular umbilical cord artery, complex heart defect and microcephalus detected in ultrasound; fetus spontaneously aborted
  mult
2-8
female/
13y
PBL de novo 49,XX,+r,+r,+r[4]/
48,XX,+r,+r[19]/
47,XX,+r[34]/
46,XX[18]
?;
r(X),r(17)
r(X) / r(17)
different FISH-probes:
centromeric probe for X and 17
see below {8}  
Family history of NF1; at age of 6 years. At age 12 1/2: height 121 cm (- 6 s.d.), weight 24.5 kg (- 4 s.d.), head circumference 50 cm ( - 2 s.d.). Inner canthal distance 2.6 cm (10th centile) outer canthal distance 7.1 cm (3rd centile); blood pressure 100/68 mm Hg, no heart murmur; single transverse palmar crease on the left and normal crease on the right; short 5th fingers; genitalia + breasts at Tanner stage I, extensive freckling on the body and on the back of her hands + bilateral axillary freckling; >5 cafè-au-lait spots; mild speech impediment
  mult
2-9
female/
4y
PBL de novo 48,XX,+mar1,+mar2[32%]/
47,XX,+mar1[54%]/
46,XX[14%]
mar1 = r(18)
mar2 = r(13)
SKY see below {10}  
marked delay in speech, slight motor delay; dysmorphic signs like medial flare eyebrows, synorphs, long eyelashes, full cheek, hyperconvex finger nails, clinodactyly of Vth finger, large space between 1. and 2. toe, deep plantar creases, prominent calcaneous
  mult
2-10
female/
5y
PBL de novo 48,XX,+mar1,+mar2[16%]/
47,XX,+mar1[26%]/
47,XX,+mar2[22%%]
46,XX[36%]
mar1 = min(6)(:p11.2q12:)*
mar2 = min(11)(:p11.11
q11:)*
SKY
proximal YAC probes for 6p and 6q
see below {11}  
Born at 40 wk gestation after a pregnancy complicated by hypertension. Birth weight 3,650 g, length 54 cm, head circumference 37 cm. Apgar index 7/8/9, pH of umbilical arterial blood 7.31. Child hypotonic, developed difficulties in breathing, followed by a transient cyanosis. Child presented a variety of craniofacial dysmorphic features: frontal bossing; severe hypoplasia of the middle face with a broad nasal bridge; a down-turned mouth with thin lips; large, dysplastic ears; an atypical furrow of the fourth left finger; premature synostosis of the sagittal and basal parts of the coronary sutures; Postnatal sonography revealed an atrial septum defect, a persistent ductus arteriousus botallo, and hypoplasia of the left kidney. Neurologically,  nystagmus in combination with divergent strabismus was noted. At the age of 5 y considerable motor difficulties, especially in regard to motor coordination; however, verbal abilities were nearly in accordance with age.
  mult
2-11
female twins/
1m?
PBL
skin Fibroblasts
de novo Twin A: 48,XX,+r1,+r2[35]/   
47,XX,+r1[7]/
47,XX,+r2[8]
Twin B: 48,XX,+r1,+r2[33]/

47,XX,+r1[12]/
47,XX,+r2[3]/
46,XX[2]in fibroblasts 30%/4%/54%/12%
r1 = r(1)(::p13q21::)

r2 =
r(16)(::p11.1
q11.2::)*

all centromeric probes see below {12}  
Twins born in week 25/26: weight 632-672g; Apgar scores 5/7; no dysmorphic features after birth detected; both with grade II intraventricular hemorrhage and stage III, zone III retinopathy of prematurety.
Twin A at 23m: microcephaly, growth and developmental delay, hypertelorism, flat nasal bridge, epicantic folds ;strawberry hemangiomas; HC = 45cm (<2centile), able to walk, specking 2 words.
Twin B at 23m: microcephaly, growth delay; bifid right thumb and left inguinal hernia; HC 43.5cm (4SD below mean); prominent metopic suture. Able to walk, and babble.
  mult
2-12
male/
20m
PBL de novo 48,XY,+r1,+r2[20%]/
47,XY,+r1[40%]/
47,XY,+r2[40%]
r1 = r(13 or 21)
r2 = r(18)
FISH with all available centromeric probes see below {14;15} case 20  
multiple congenital abnormalities; at birth he had a truncus arteriousus type I; atrial and ventricular septal defects, A-V canal, sepsis, pyloric stenosis, seizures resulting from front-parieto-temporal intracranial hemorrhage; at 11m he sat, crawled, walked, smiled, babbled and developmentally normal; at 20m weight at 70-90th percentile, OFC at 2. percentile, internal strabismus, malformation of T-12 vertebrae, levo scoliosis, microphallus
  mult
2-13
female/
22y/ daughter/
1w
PBL de novo in mother 47,XX,+r1[53%]/
47,XX,+r2[4%]/
46,XX[43%]  mother
48,XX,+r1,+r2[10%]/
47,XX,+r1[10%]/
47,XX,+r2[40%]/
46,XX[40%] daughter
r1 = r(13 or 21)
r2 = r(12)
FISH with all available centromeric probes see below {14;15} case 21a and 21b  
mother: developmental delay and heart murmur, bilateral postaxial polydactyly, neonatal rectal fissure, umbilical hernia, minor cerebral palsy, learning disabilities, low normal intelligence
daughter: (father normal chromosomes); at birth 1648g, born in week 31, 43cm long, with large head (OFC 33cm) with extended occiput, small ears and mouth, froglike positioning of legs, bilateral simian crease, duodenal atresia, an annular pancreas, patent ductus arteriousus, arterial septal defect; at 9days she developed a grade 4 intraventricular hemorrageand died at day 12.
  mult
2-14
male/
prenatal
AF/PBL de novo 48,XY,+r1,+r2[67%]/
47,XY,+r1[28%]
46,XY[5%%]
(in PBL 42%/42%/16%)
r1 = r(3)
r2 =
unknown (only tested for 2, 8, 13/21, 14/22, 15, 18, 20, X, Y
no additional material available)
FISH with all available centromeric probes normal at birth {16} case 28  
  mult
2-15
female/
1w
PBL de novo 48,XX,+mar1,+mar2[?]/
47,XX,+mar1[?]
47,XX,+mar2[?]
mar1: r(9)(::p13.2q10~11::)
mar2: r(18)(::p11.23
q12.1::)
M-FISH; different FISH probes (BACs) initially Down syndrome suspected {20}  
  mult
2-16
male/
child
PBL de novo 48,XY,+mar1,+mar2[?]/
47,XY,+mar1[?]/
47,XY,+mar2[?]/
46,XY[?]
mar 1: mar(11)
mar2: ?
different cep-probes mild psychomotor delay {21} case 4  
 
mult
2-17
female/
prenatal
AF and PBL paternal ?
2/100 cells with mar
48,XX,+2mar[23]/
47,XX,+mar[10]/
46,XX[8] from AF;
48,XX,+2mar[7]/
47,XX,+mar[7]/
46,XX[1] from PBL
r(X)(::p11.2q12::)
inv dup(15)(:q11.1
q11.2:)
X-chr.: 57.73-64.59
chr. 15: 0.00-21.05
midi, array-CGH see below {0} provided by Dr. A Dufke, Tübingen, Germany  
advanced maternal age, previous pregnancy with hydrops fetalis and 45,X; this pregnancy was carried on and a normal female baby was born, (weight: 3500g, length 36cm, OFC 36cm, APGAR 9/10/10. Now at 8y acc. to mother no abnormalities, only growth delay; no mental problems.
  mult
2-18
female/
6y
PBL
(EKF-
cellbank)
n.a. 48,XX,+mar1,+mar2[101]/
47,XX,+mar1[38]/
47,XX,+mar2[29]/
46,XX[5]
min(4)(:p12q12:); r(18)(::p11.21q11.2:
:p11.21
q11.2::)[2]/
inv dup(18)(:p11.1
q11.1:
:q11.1
p11.1:)[4]/
min(18)(:p11.21
q11.1:
:q11.1
p11.1:)[4]
chr 4: 48.34-59.71
chr. 18: 13.17-18.73
M-FISH, subcenM; midi
array-CGH; UPD-test
dysmorphic features, multiple congenital malformations {0}
{27} case MK
{28}case 15
 
  mult
2-19
female/
8y
PBL
(EKF-
cellbank)
n.a. 49,XX,+3mar[1]/
48,XX,+2mar[10]/
47,XX,+mar[9]/
46,XX[3]
r(5)(::p11q11.1:
:q12
13.1~3::)
40.66MB to 47.10MB 
min(6)(:p11.1
q11.2:);
57.10MB to 64.87MB
MCB; subcenM; midi; array-CGH see below {0}
{24}
 
born at term in week 40; length 51 cm, weight 3580g, OFC 35cm; small fontanels and epicanthus on both sides but normal after birth; OFC developed along 3rd centile; adiposities; developmental retardation; At 6 y, adiposities, telecanthus, epicanthus and other minor dysmorphism. mental and developmental retarded. As young adult woman living independently and normal life with profession in health care system.
  mult
2-20
male/
10y
PBL de novo 48,XX,+mar1,+mar2[68]/
47,XX,+mar1[19]/
47,XX,+mar2[6]/
46,XX[8]
r(Y)(::p11.3q11.2::)
r(8)(::p11
q11::)
midi; some probes as specified in {22}; UPD-test for #8 see below {22}  
Born at term; birth weight: 2,900 g, birth length 48 cm. At 10y learning difficulties and severe speech delay. Motor development was normal, speech development delayed and began at age 6 y. At the age of gynecomastia (Tanner stage 2), mild eunuchoid overgrowth (165 cm, height of the mother was 175 cm and of the father was 175 cm), mild obesity (68.5 kg), and normal head circumference; mild facial anomalies including long face, lateral hypoplasia of eyebrows, almond shaped eyes, epicanthic folds, broad bulbous nose, thin upper lip, down-turned corners of the mouth, small teeth, narrow palate, and large ears with mildly dysplastic pinnae and thickened helix. Fingers and toes slender, body hair decreased. Computed tomography of brain normal. At age of 13 y poor language, speech, and writing skills, including ungrammatical speech, articulation dyspraxia, and a vocabulary below age-appropriate standards. Nonverbal abilities and memory normal.
  mult
2-21
male/
3y
PBL
(EKF-
cellbank)
de novo 49,XY,mar2x2[7]/
48,XY,mar1,mar2[52]/
47,XY,mar1[37]/
46,XY[4]
r(8)(:p12q11.1:
:
q11.1p21.1:),
min(8)(:p11.22
q11.21:
:q11.21
p21.1::p21.1
p11.22:) [70%],
min(21)(:p11.1
q21.3:) [30%]
chr 8: 28.63-48.74 MB
chr 21: 13.30-28.90 MB
M-FISH, subcenM
array-CGH; UOD-test for #21
see below {0}
{27} case NP
{28} case 16
{36}
 
Intrauterine and postnatal growth retardation, at 6y microcephaly, brachycephaly, hypotonia, psychomotor retardation, partial agenesis of corpus callosum abnormal dermatoglyphic patterns and facial dysmorphism (slant up palpebral fissures, anteverted nares, relatively large ears, prominent lower lip, long philtrum)
  mult
2-22
male/
prenatal
AF n.a. 48,XY,+mar1,+mar2[100%] mar1 = mar(13/21)
mar2 = mar(17)
n.a. see below {25} case 105  
Abnormal ultrasound findings; duodenal atresia, polyhydramnions stillbirth
  mult
2-23
female/
prenatal
AF n.a. 48,XX,+mar1,+mar2[8]/
47,XX,+mar1[7]
mar1 = mar(13/21)
mar2 = non-acrocentric
n.a. positive multiple marker serum screen; normal at 3 momths {25} case 106  
  mult
2-24
female/
prenatal
AF n.a. 48,XX,+mar1,+mar2[8]/
47,XX,+mar1[5]/
47,XX,+mar2[3]/
46,XX[8]
mar1 = mar(18)
mar2 = no result
n.a. advanced maternal age; TOP {25} case 107  
  mult
2-25
female /
prenatal
AF de novo 48,XX,+mar1,+mar2[1]/
47,XX,+mar1[8]/
47,XX,+mar2[4]/
46,XX[6]
mar1 = min(1)(:p11.1q12:)
mar2 = min(8)(:p11.21
q11.1:)
cenM; subcenM fallot tetralogy and diaphragmic hernia in week 18 (US), child born and died after a few days {0} provided by Dr. Mehnert, Neu-Ulm, Germany  
  mult
2-26
female /
adult
PBL n.a. 48,XX,+2mar[50%]/
47,XX,+mar[50%]
r(7)(::p11.2q11.21::)[10]/
r(7)(::p11.2
q11.21:
:p11.2
q11.21::)[2] and min(13)(pterq12.1:)
cenM; subcenM; UPD-test see below {0} provided by Dr. Michal Sagai, Israel  
Patient mildly mentally impaired and that her husband is likewise. She was a slow developer as a child, and her parents thought she may have had mild cerebral palsy. However she is a completely functioning adult - was working in an office job, looking after a household, and a very conscientious mother.  She is slightly dysmorphic - has a slightly coarse face with a prominent lower jaw. sSMC 7 is present in 11/100 buccal mucosa cells
  mult
2-27
n.a./
postnatal
PBL n.a. 48,+mar1,+mar2[36%]/
47,+mar1[36%]/
47,+mar2[28%]
mar1: min(11)(:p10q12.1:)
distal clone in 11q RP11-736I10 (59.61MB)
mar2:
min(17)(:p11.2
q10:)
distal clone in 17p
RP11-64J19 (21.01MB)
array-CGH multiple congenital abnormalities {26} case 6
{31} case 10
 
  mult
2-28
female/
4 m
PBL n.a. 48,XX,+mar1,+mar2[16]/
47,XX,+mar2[4]
mar1:
min(8)(:p11.1
q11.21~11.22:)
mar2
min(11)(:p11.1
q11.1:)
cenM; subcenM prematurity {0} provided by J. Anderson, Brisbane, Australia  
  mult
2-29
female/
42 y
PBL n.a. 49,XXX,+mar1,+mar2/
48,XXX,+mar1
mar1:
inv dup 14/22(q11.1)
mar 2:
inv dup(15)(q11.1)
midi; cep probes, array-CGH normal female, mar 1 detected in child {0} provided by Dr. Gloning München  
  mult
2-30
male/
8y
PBL de novo 48,XY,+mar1,+mar2[13]/
47,XY,+mar1[9]/ 47,XY,+mar2[13]/
46,XY[19]
markers not specified in detail:
mar(13/21)(?pterq12.11:)
breakpoint in q at 20.83MB
min(17)(:p11.2
q11.2:)
breakpoint in p at 20.59MB and in q at 25.72MB
sSMC 17 derived from maternal chromosome 17
BACS as specified in {33}; array-CGH (SNP-chip); UPD-test for #17 see below {33}  
At birth: 2,994 g; as baby: hypotonia and micrognathia. Sitting at 9m, crawling at 1y, walking at 18m; at 6y IQ 40; at 8y developmental delay, verbal and oral apraxia, oropharyngeal dysphasia, uses an augmentative communication device at school and has a 10-word vocabulary. Hearing evaluations have been normal. Autism, significant inattention and hyperactivity. Also had a single febrile seizure and EEG abnormalities and ophthalmologic abnormalities including hypermetropia, esotropia, and astigmatism. Normal anthropomorphic measurements. Also present mild dysmorphic features including a prominent forehead and a high arched palate. Three hair whorls were present. Chest exam revealed a mild pectus excavatum. There was mild fifth finger clinodactyly bilaterally and hyperextensibility of the digits. An MRI of the brain showed mild inferior cerebellar vermian hypoplasia and mild thinning of the corpus callosum. A sleep study was normal with the exception of an abnormal EEG showing prominent spike and wave activity.
  mult
2-31
male/
postnatal
PBL n.a. 48,XY,+mar1,+mar2/
47,XY+mar/
46,XY
mar1 = min(9)(:p12q12:)
mar2= r(8)(::p21
q11.21::)
cenM, subcenM, MCB n.a. {0} provided by Dr. C. Fuster, Spain  
  mult
2-32
female/
1y
PBL n.a. 48,XX,+mar1,+mar2[22]/
47,XX,+8[21]/
47,XX,+mar1[8]/
46,XX[22]
mar 1= min(8)(:p11.21q11.1:)
mar 2 = min(20)(:p11.2
q11.1:)
cenM, subcenM, multiple congenital malformations {0} provided by Dr. A. Polityko, Minsk, Belarus  
  mult
2-33
female/
prenatal
chord blood n.a. 48,XX,+mar1,+mar2[100%] inv dup(13;21)(q11.1)
dic(4;4)(:p12
q12:
:p12
q12:)
cenM, subcenM see below {0} provided by Dr. Horacek, Czech republic  
Autopsy result: female fetus, induced abortion at gestational week 22, length 28 cm. Facial dysmorphism, wide nose bridge, macroglossia, low-set ears. Body and limbs with no external abnormalities, no pathological findings (macro- and microscopically) on brain, lungs, kidneys, adrenal gland, gallbladder, external and internal female genitalia, morphology corresponding with the gestational age.
  mult
2-34
female/
postnatal?
PBL? n.a. 48,XX,+mar1,+mar2[93%]/
46,XX[7%]
mar 1= min(13)(pterq12.12:)
mar 2 = mar(20)(:p11.21
q11:)
array-CGH abnormal {34} case 25862  
  mult
2-35
male/
postnatal?
PBL? n.a. 48,XY,+mar1,+mar2[21%]/
46,XY[79%]
mar 1= min(13)(pterq12.11:)
mar 2 = mar(X)(:?::Xp22.31
Xp22.31:
:Xp22.2
Xp22.12:
:?
cen?:)
array-CGH abnormal {34} case 27978  
  mult
2-36
female/
postnatal?
PBL? n.a. 48,XX,+mar1,+mar2[63%]/
46,XX[37%]
mar 1= mar(4)(:p13q12:)
mar 2 = min(13)(pter
→q12.11:)
array-CGH abnormal {34} case 31633  
  mult
2-37
female/
postnatal
PBL de novo 48,X,+mar1,+mar2[20]/
46,X,+mar1[12]
mar 1= inv dup(13or21)(q11.1)
mar 2 = inv dup(Y)(q11.2)
cep probes, subcenM, SRY nanosomia {0}  
  mult
2-38
male/
postnatal
PBL de novo 48,XY,+mar1,+mar2[100%] mar 1= min(16)(:p11.1q12:)
mar 2 = min(20)(:p11.2
q11.1:)
cenM, subcenM,   nanosomia {0} provided by Dr. Zivi Borochowitz; Israel  
  *** mult
2-39
*** chr 6 and 20
female/ 28y PBL n.a. 48,XX,+mar1,+mar2[24]/
47,XX,+mar1 or 2[5]/
46,XX[3]
mar 1= min(6)(:p11.2q12:)
mar 2 = min(20)(:p11.21
q11.1:)
breakpoint in 20p: 22.83
sSMC(6): 57.35-66.40
cep probes
aCGH
recurrent spontaneous abrtions {44}  
  mult
2-40

male/
prenatal
CH n.a. 47,XX,+mar1[60%]/
46,XX[40%]
second mar not detected in cytogenetics but in FISH
mar 1= r(4)(:p14q12:)
mar 2 = min(11)(:p11.1
q11:)

48,XY,+r(4)(::p14
q12::),+min(11)(:p11.11->q11:)[5]/
48,XY,+r(4;4)(::p14q12::p14
q12::),
+min(11)(:p11.11->q11:)[5]/
47,XY,+min(11)(:p11.11
q11:)[10]
cenM, subcenM
aCGH
AMA, normal sonography; previous pregnancy with trisomy 21 {0} provided by Dr. Duba; Linz, Austria  
  mult
2-41
male/
3m
PBL de novo 48,XX,+mar,+mar[42]/
47,XX,+mar[36]/
46,XX[46]
min(15)(pterq11.1:)
min(20)(:p1?1.1
q1?1.1:)
cenM, subcenM mental retardation; dysmorphism {0} provided by Dr. Mkrtchyan, Yerevan  
  mult
2-42
male/
prenatal
PBL - fetal de novo 48,XX,+mar,+mar[?mos?]

r(5)(p13.2q11.2:)
r(20)(:p11.1
q12:)

cenM, M-FISH, mband
severe IUG {46} case 4  
  mult
2-43
n.a./
prenatal
AF de novo 48,+mar,+mar[6%]/
46[94%]
mar(14 or 22)
mar(20)
n.a.; subcenM with 3 BACs; aCGH At birth normal and normal development at 9 months of age {47} case 23  
  mult
2-44
female/
postnatal
PBL de novo 48,XX,+mar1,+mar2 min(2)(:p11q11.2:)
min(14 or 22pter14 or 22q11.1::19q1219q13.31::)*
aCGH VSD, urinary reflux, corpus callosum agenesis, microphthalmia, obesity.
{48}  
  mult
2-45
female/
31y
PBL n.a. 48,XX,+mar1,+mar2[4]/
47,XX,+mar1 or 2[13]/
46,XX[3]
der(1)(:p11.1q12:)[5]
der(7)(:p11.1q11.21:)[2]
cenM, subcenM normal woman, infertile {0} provided by Drs.Wagner, Stibbe, Hannover, Germany  
  mult
2-46
female/
prenatal
AF/ PBL de novo 48,XX,+mar,+mar[15]/
47,XX,+mar[6]

der(10)(p11.22p11.1)
der(12)(p11.21q12)
aCGH (hg19):
chr10:34.3-38.7 Mb
chr12:32.0-40.7 Mb

aCGH

prenatal test due to slight sonographic signs;
chold born with overgrowth (l and w an 99. centile); at 1y normal development; at 2.5 years normal, slight tendecy to overgrowth and slight stuttering

{0} provided by family  
  mult
2-47
male/
prenatal
fibroblasts n.a. 49,XY,+16,+mar,+mar[100%]

mar1:
min(1)(:p11.1q12:)[5]
mar2:
min(7)(:p11.1q11.21:)[2]

cenM

aborted fetus

{0} provided by Dr. Enders, Ulm, Germany  
                     

 


References

Cases with sSMC derived from 3 different chromosomes

 

 
  case no. gender/
age at diagnosis
studied
material
de novo/
inherited
GTG-banding result
grade of mosaicism
final result of the sSMC test
methods
clinical symptoms reference  
  mult
3-1
male/
prenatal
AF
Fibroblasts
de novo 49,XY,+r1,+r2,+r3/
48,XY,+r1,+r2/
48,XY,+r1,+r3/
47,XY,+r1/
47,XY,+r2/
47,XY,+r3/
46,XY
r1 = r(4;4)[~53%].ish (cep++;wcp-)
r2 = r(17)[~55%].ish (cep+;wcp-)
r3 = r(20)[~30%].ish (cep+,wcp+)
all centromeric probes and wcp probes amniocentesis due to advanced  maternal age; pregnancy terminated in week 21; fetal pathology showed minor dysmorphic features (slight brachycephaly, large anterior fontanels, hypertelorism, nuchal thickening) {1} case 1  
  mult
3-2
male/
prenatal
AF de novo 49,XY,mar1,+mar2, +mar3[?]/
48,XY,+mar1,+mar2[7]
mar1 = mar(12)
mar2 = mar(19)
mar3= mar(13/21)
n.a. amniocentesis due to abnormal ultrasound findings; at birth developmental delay and dysmorphic features {25} case 103  
  mult
3-3
male/
prenatal
AF de novo 48-50,XY,+r,
+1-3mar[11]/
47-49,+1-3mar[10]
mar(4); mar(8), mar(non-acrocentric) n.a. amniocentesis due to advanced maternal age; normal at 20 months {25} case 104  
  mult
3-4
female/
prenatal
AF
skin fibroblasts
de novo 47~50,XX,+mar1,
+mar2,+mar3[cp50]
mar(3); mar(7);
mar(8)
all centromeric probes, all wcp probes amniocentesis due to enhanced Down syndrome risk after prenatal serum screening, normal ultrasound; TOP in week 22; autopsy: small VSD, cliteromegaly, pulmonary segmental defects {29}  
  mult
3-5
male/
4m
PBL
(EKF-
cellbank)
de novo 49,XY,+3mar[13]/
48,XY,+2mar[22]/
47,XY,+mar[23]/
46,XY[2]
r(4)(::p12q12::)
r(8)(::p11.21
q11.21::)
40.08-53.56 MB (hg19)
r(11)(::p11.12
q11.1::)
cenM;
subcenM
Pierre-Robin-sequence, ventricular septum defect, patent foramen ovale, cryptochism, flaccid joints, gothic palate, umbilical hernia, at birth urinary tract infection {54} postnatal case
 
  mult
3-6
male/
4y
PBL de novo 49,XY,+3mar[9]/
48,XY,+2mar[25]/
47,XY,+mar1[13]/
47,XY,+mar2[14]/
46,XY[3]
mar1 = mar(5)(:p11q11.2:)
49.73-52.94MB
mar2 = mar(8)(:
p21.1q11.22:)
19.15-51.87MB
mar3 = min(9)(:p13.3
q11:)
34.25-39.18MB
array-CGH; Mental retardation, hypertelorism, upslanting palpebral fissures, bifid uvula, hypospadias, right testicular ectopia, syndactyly toes 2 and 3, obesity {37} case P-14  
  mult
3-7
female/
15y
PBL de novo 49,XX,+3mar[?%]/
48,XX,+2mar[?%]/
47,XX,+mar[?%]
mar1 = min(2)(:p11.2q11.2:)
88.11-99.00MB
mar2 = min(3)(:
p12.1q11.1:)
86.20-90.26MB
mar3 = min(7)(:p11.21
q11.1:)
?-.MB
array-CGH; Short stature, short webbed neck, low hair line, short hands, stubby fingers, generalized hypotonia, short 3-4 toes {37} case P-15  
  mult
3-8
male/
newborn
PBL de novo 50,XY,+mar1, +mar2, +mar3, +mar4[16]/
49,XY,+mar1, +mar2, +mar3[28]/
48,XY,+mar1,+mar2[48]/
47,XY,+mar1[8]
mar 1 = der(19)
mar 2 = der(11)
mar 3 = mar1
mar 4 = der(11;19)
#11: 48.84-58.75MB
#19: 23.36-34.85MB
array-CGH, cep probes  IUGR; oligohydramnion; birth weight at 23rd centile, lenght at 52nd, OFC at 36th; at 3m: hypersomnia. pneumonia, hypotonia, dysmorphic face and others {38}  
  mult
3-9
male/
3y
PBL de novo 49,XY,+3mar[9]/
48,XY,+2mar[16]/
47,XY,+mar[1]
dic r(15)ins(15;5)(?;q35.5q35.3)
min(18)(:p11.21
q11.1:)*
min(18)(:p11.1
q11.1:)*
#5: 178.49-179.52MB
#15: 20.37-29.35MB
#18: 11.69-17.15MB
 
array-CGH, cep probes
locus specific probes
during pregnancy preeclampsia, walking with 15m, language development severely delayed; hyperactive, at 3y: weight and  height ~90th centile, dysmorphic  face {40; 49}  
  mult
3-10
female/
4y
PBL n.a. 49,XY,+3mar[2]/
48,XY,+2mar[18]/
47,XY,+mar[8]
46,XX[2]

der(1)
(p11.2
q1?2)
der(12)(p13.3
q13.11)
der(18)(p11.21
q1?1)

array-CGH, cep probes severe mental retardation, absent speech, prominent forehead, epicanthus folds, hypertelorism, large ears, depressed broad nasal bridge, long smooth philtrum and a wide mouth with thin upper lip. She still walks on the tips of her toes. {41; 51}  
  mult
3-11
female/
postnatal
PBL de novo 49,XY,+3mar[?]/
48,XY,+2mar[?]/
47,XY,+mar[?]
min(2)(:p11.1q11.1:)
der(18)(:p11.21q11: :q11
p11.21:)
der(?)
#18: ~0.52MB in p euchromatin
pericentric BAC-probe set no clinical signs {50} case 15  
  mult
3-12
female/
postnatal
PBL n.a. 49,XX,+3mar[5]/
48,XX,+2mar[4]/
47,XX,+mar[1]
min(7)(:p11.1q11.1:)[5]/min(7)(:p11.1q11.21:)[2] - no sSMC(7) in 3/10 metaphases;
min(8)(:p11.21q11.1:)[4]/min(8)(:p11.1
q11.1:)[1] - no sSMC(8) in 5/10 metaphases;
min(10)(:p11.21
q11.1:)[9] - no sSMC(10) in 1/10 metaphases
cenM, subcenM n.a. {0} provided by Dr. Soler, Porto, Portugal
 
  mult
3-13
n.a./
newborn
PBL n.a. 49,XN,+mar1, +mar2,+mar3 mar(1)
mar(6)
mar(9)
possibly #17 material also in one complex sSMC
aCGH respiratory distress and suspected sepsis
{53} case 1  
                     

 


References

Cases with sSMC derived from 4 different chromosomes

 

 
  case no. gender/
age at diagnosis
studied
material
de novo/
inherited
GTG-banding result
grade of mosaicism
final result of the sSMC test
methods
clinical symptoms reference  
  mult
4-1
female/
1m
PBL de novo (?) paternal chrs. not tested. 47-50,XX,+1-4mar/
46,XX
r(4)[77%]
r(8)[46%]
r(10)[13.5%]
r(X)[13.5%]

(cep+ and wcp+)
all centromeric probes and wcp probes see below {1} case 2  
Child born at term; child appeared hypotonic with hypertelorism, micrognathia and full neck. Developmental milestones were reached at appropriate age at 35m , 3y and 4y. Exception: gross motor delay caused by excessive joint laxity. At 4y slim build and slightly long face with epicantic folds.
  mult
4-2
male/
7m
PBL de novo 52,XY,+marx6[1]/
51,XY,+marx5[15]/
50,XY,+marx4[19]/
49,XY,+marx3[13]/
48,XY,+marx2[2]
mar 1 = r(7)[82%]
mar 2 = r(15)[74%]
mar 3 = r(22)
mar 4 = r(22)[64%]
mar 3+mar 4  [6%]
mar 5+mar 6 = r(?5) 
no clear clarification of mosaic status
SKY;
telomeric probes
developmental delay, poor feeder, marked hypotonia, macroglossia, low set ears. {9} case 1  
  mult
4-3
male/
58y
PBL n.a. see below min(1)
min(5)
min(6)
min(7)
no clarification of mosaic status
SKY detected due to fragile X suspicion according to following symptoms: mental retardation, impaired speech, dysmorphic features.  {9} case 2  
51,XY,+mar1-3,+mar5-6[1]/50,XY,+mar1-4[1]/50,XY,+mar2-3,+mar5-6[1]/49,XY,+mar1-3[19]/49,XY,+mar2-4[1]/
49,XY,+mar2-3,+mar5[1]/48,XY,+mar1-2[5]/48,XY,+mar2-3[9]/47,XY,+mar1[1]/47,XY,+mar2[4]/47,XY,+mar3[2]/46,XY[5]
  mult
4-4
female/
prenatal
AF/PBL de novo 51,XX,+5mar[?%]/
50,XX,+4mar[majority]/
49,XX,+3mar[?%]/
48,XX,+2mar[?%]
mar 1 = der(11)r(4;11)(::11q1111q12.1:
:4q12::)
mar 2 = der(7)(:p11.1:)
mar 3 = der(1)(:p12:)
mar 4 = der(X)(:p11.1
q11.1:)
array CGH; SKY; see below {30} case 4  
prenatal: bilateral cleft lip anomaly, ventriculomegaly, and possible agenesis of the corpus callosum. At birth, bilateral cleft lip anomaly, flattened nasal profile (nasomaxillary hypoplasia), upslanting palpebral fissures. MRI of brain showed fusion of the frontal lobes and thalami, partial agenesis of the corpus callosum, consistent with a semilobar holoprosencephaly. Echocardiogram: normal intracardiac structure with patent ductus arteriousus 
  mult
4-5
male/
30y
PBL de novo 50,XY,+mar1,+mar2,
+mar3,+mar4[100%]
min(6)(:p11.1q11.1:)
min(8)(:p11.1
q11.1:)
min(11)(:p11.11
q11:)
min(12)(:p12.1
q10:)
cenM, subcenM see below {35}  
born after 39 gestational weeks by caesarean section because of macrosomy showing a weight of 4,250 gr (p> ), and an Apgar of 3, needing intensive reanimation. With 5 hours of life he suffered apnea for two minutes, as well as hypoglucemia and hypocalcemia that were treated having good respond and never happened again. Clinical examination showed bilateral cryptorchidism. During pregnancy the only relevant fact to be consider was that the mother was treated with Diazepam in late pregnancy. When the child was 19 months old, his weight and length were 2DS below normality. The child in his evolution showed psychomotor delay, starting deambulation when he was 22 months old, and a bilateral convergent strabismus. When he was 10 years old, the testes were surgery descended. And at 13 years old, the strabismus was also corrected. At school he was always having slight learning difficulties, with normal social behaviour. Later on, he never study, becoming a painter. When he was 22 years old, with no facial dysmorphism, was remitted to a Genetic Laboratory (“unknown laboratory”) showing a weight of 89 kg (p<), a length of 165 cm (p<) and a Corporal index mass of 32.7. He had hypogenitalism, with a short thick penis (6cm), and testes with 8 and 10 cc. He has multiples hyperpigmented nevi all over his body (Fig. ) showing no sign of malignancy after biopsy. He also has a left vesicoureteral reflux grade III, with a normal renal function. The cardiologic, audition and fundus of the eye examinations were normal. Blood biochemistry was normal.
  mult
4-6
male/
7y
PBL de novo 50,XY,+mar1,+mar2,
+mar3,+mar4[100%]
r(5)
min(?)
min(?)
min(?)
SKY see below {39}  
At birth: weight 2920 g (25th centile), length 52 cm (25th-50th centile), occipital frontal circumference (OFC) 33.5 cm (< 3rd centile). At 7y height 101 cm (< 3rd centile), weight 16 kg (< 3rd centile), head circumference 47 cm (< 25th centile); intellectually impaired, delayed milestones, facial dysmorphism, microcephaly, flat occiput, short philtrum, drooling of saliva, epicanthic folds, downward slanting palpebral fissures, depressed nasal bridge and cafeaulait spots.
  mult
4-7
female/
7m
PBL de novo 47,XY,+mar1[4]
48,XY,+mar1,+mar2[13]/
49,XY,+mar1,+mar2,
+mar3[27]/
50,XY,+mar1,+mar2,
+mar3,+mar4[4]
After FISH:all cells with mar1, mar 2 and mar3; 85% also with mar4
mar1 = mar(4)(:p12
q12:)
mar2 = mar(8)(p11.21
q11.1)
mar2 = mar(13)(pter
q12.11)
mar4 = mar(5)(:p13.2
q11.2:)
#4: 46.04-58.46MB
#5: 35.98-58.15MB
#8: 40.62-43.05MB
#13: 0.0-22.14MB
ceps, aCGH, MLPA
mental retardartion, developmental delay, facial abnormalities,. abnormal placed anus, ASD
{0} provided by Dr. E. Mansilla Aparicio, Madrid, Spain
 
  mult
4-8
male/
adult
PBL n.a. 47-50,XY,+1-4mar[70%]/
46,XY[30%]
min(3)(:p11.1q11.1:) r(6)(::p11.2q11.1::) r(9)(::p11.2q12::) min(13)(pterq12:) cenM, subcenM normal male {0} provided by Dr. Marija Vesijc, Belgrade, Serbia
 
  mult
4-9
male/
24y
PBL ?de novo 50,XY,+mar1,+mar2,
+mar3,+mar4[5]/
49,XY,+mar1,+mar2,
+mar3[99]/
48,XY,+2mar[70]/
47,XY,+1mar[22]/
46,XY[3]
mar1 =
r(11)(::p11.12
q12.1::)
mar2 = r(12)(::p11.1
q11::)
mar3 = r(X)(::p11.1
q12::)
mar4 = ??
#11: 50.71-56.74MB
#12: 34.44MB - cep
X: cep - 64.82MB
ceps, aCGH
UPD test
mild intellectual delay; obesety from 7y of age on; ASD, dysplastic aortic and pulmonary valves, club foot left, bilateral inguinal hernias, unilat. cryptochidism, assymm. growth of lower legs {43; 45}  
  mult
4-10
female/
newborn
PBL de novo 50,XX,+mar1,+mar2,
+mar3,+mar4/
49,XX,+mar1,+mar2,
+mar3/
48,XX,+2mar/
47,XX,+1mar
mar1 =r(X) [100%]
mar2 = r(8) [79%]
mar3 = r(14 or 22)[58%]
mar4 = r(15)[10%]
ceps small size, microcephaly, facial asymmetry, hemangioma, right ptosis, hand anomalies, 11 ribs, hip dislocation, seizures, scoliosis {15} case 22  
                     

 

 


References

 

Cases with sSMC derived from 5 different chromosomes

 

 
  case no. gender/
age at diagnosis
studied
material
de novo/
inherited
GTG-banding result
grade of mosaicism
final result of the sSMC test
methods
clinical symptoms reference  
  mult
5-1
male/
1w
PBL;
skin fibro
n.a. 51,XY,+mar1-5[20%]
50,XY,+mar1-4[47%]
49,XY,+mar1-3[29%]
48,XY,+mar1-2[4%]
min(6)
min(7)
min(10)
min(12)
min(19)
COBRA-FISH; 
centromeric probes;
telomeric probe
see below {18}  
born at term but the pregnancy was complicated by hydramnion and moderate hypertension in the 25th and 35th weeks, respectively. At birth APGAR score normal, length 55 cm (90-97centile), head circumference 37 cm, weight 4,880 g (>97 centile), placenta weight 1,145 g. Physical examination showed hypotonia, opisthotonos, broad nasal bridge, large lips, retrognathia, and proximally implanted thumbs. Auscultation revealed heart tones on the right side of the thorax and a chest X-ray disclosed a total situs inversus and an atrium septal defect (confirmed by ultrasound). I.V.P. showed renal cysts. A CT-scan of the brain revealed slight widening of the ventricles, agenesis of the corpus callosum with normal sulci. For the first 6 months, the child experienced drinking problems, esophageal reflux, vomiting, and apnoeic attacks. Tetraplegia and psychomotor retardation became gradually apparent. The child died suddenly at home at the age of 7 months. Permission for post-mortem examination was not granted.
  mult
5-2
male/
prenatal
CH n.a. 50~55,XX,+4~9mar min(X)(:p11.1q11.1:)
min(1)(:p11.1
q11:) or min(5)(:p11q11.1:) or min(19)(::p11q11:)
r(12)(::p11.2
q11.1::)
min(13)(:p11.1
q12.1:)
min(16)(:p11.1
q11.1:)
cenM, subcenM hypotroph fetus with enhanced nuchal translucency, hexadactyly and omphalocoele. TOP. {0 provided by Dr. Mau-Holzmann, Tübingen, Germany  
  mult
5-3
n.a./
prenatal
CH n.a. mos 47-?50,XN,+mar1-?6 min(4)
(:p12
q12:)
min(6)
(:p11.1
q11.1:)
min(9)
(:p12
q12:) min(14)
(:p11.1
q11.1:) min(22)
(:p11.1
q11.1:)
cenM, subcenM; aCGH TOP {42} {54} prenatal case
 
  mult
5-4
female/
3y
n.a. n.a. mos 49-51,XX

der(12) - maybe inv dup(12p)
der(19)
der(21)
der(22)
der(X)

SKY n.a. {52} 1 case  
                     

 

 


References

 

Cases with sSMC derived from 6 different chromosomes

 

 
  case no. gender/
age at diagnosis
studied
material
de novo/
inherited
GTG-banding result
grade of mosaicism
final result of the sSMC test
methods
clinical symptoms reference  
  mult
6-1
male/
47y
PBL de novo 47-52,XY,+mar1-6[30] see below midi;
all centromeric probes and YAC probes as specified in {13}
moderate mental retardation; no dysmorphism {13; 0}  
r(1)(::p11.1q21.1:)[12]/r(1)(::q21.1p11.1::p11.1q21.1::)[5]/min(1)(:p11.1q21.1:)[2]/
der(1)(:q21.1
p11.1::p11.1q21.1:)[1] present in ~34%
?r(2)
der(5)(:p11
q11.1::q11.1p11:) or der(5)(:q11p11::q11.1p11:) or der(5)(:p11q11.1::p11q11.1:)
present in ~62%
min(6)(:p11.1
q11.1:)[7]/ min(6)(:p11.2q11.1:)[3]/der(6)(:p11q11.1::q11.1p11.1:) or der(6)(:q11p11.1::q11.1p11.1:) or der(6)(:p11q11.1::p11.1q11.1:)[1] present in ~51%
min(12)(:p11.1
q11:)[15]/der(12)(:p11.1q11::q11p11.1:) or der(12)(:q11p11.1::q11p11.1:) or der(12)(:p11.1q11::p11.1q11:)[6]present in ~15%
inv dup(14)(q11.1) present in ~15%
  mult
6-2
female/
6y
PBL de novo 47-52,XX,+mar1-6[50] see below all cep probes; wcp probes for markers; array CGH mild developmental delay, dysmorphic features, impaired speech, II-III toes syndactily, velar deficiency, height: 123.5cm (+1SD), weight 31kg (+4SD), head circumference -1SD, anxious, behavioral problems {32}  
mar(3)(:p12.3q13.13:)[58%] array-CGH: RP11-59E22 to RP11-71D1; mar(12)(:p11.22q12:)[100%] array-CGH: RP11-780A5 to RP11-490D11; mar(13 or 21); mar(22) [18%]; mar(X) [18%]; 6th DAPI positive marker not identified [2%]
mult
6-3
n.a./
7m
PBL n.a. 49-52,XN,+3-6 mar

mar(1)
mar(8)
mar(13)
possible also complex sSMC with material from X, 6 and 16

aCGH VSD, patent ductus arteriosus, low set ears,  widely spaced nipples {54} case 2
                     

 


References

 

Cases with sSMC derived from 7 different chromosomes

 

 
  case no. gender/
age at diagnosis
studied
material
de novo/
inherited
GTG-banding result
grade of mosaicism
final result of the sSMC test
methods
clinical symptoms reference  
  mult
7-1
male/
prenatal
AF/PBL
(EKF-
cellbank)
de novo 49-53,XY,+mar1-7[100%] r(11) in ~84%
?r(1) in ~90%
?r(3) in ~80%
min(X) in ~88%
min(20) in ~74%
min(14) in ~94%
min(21) in ~83%
midi;
all centromeric probes wcp probes
see below {17}  
detected prenatally due to suggested bladder outlet obstruction in ultrasound; child born in 36. week with 3190g, 52cm, OFC 35.3cm; Apgar 9/10/10; mild macrocephaly, unilateral hydronephrosis, at 4m (psychomotor) development normal
  mult
7-2
male/
prenatal
AF/PBL de novo (? - father n.a.) 49-53,XY,+mar1-7[100%] see below all centromeric probes detected prenatally due to advanced maternal age; normal in ultrasound, baby born in week 36 of gestation; grossly normal (also at age of 2 y) apart from hypospadia and undescended testes {23}  
Amniocytes: mar(1/5/19),mar(6),mar(9)[27]/mar(1/5/19),mar(6),mar(9),mar(13/21)[23]/
mar(1/5/19),mar(6),mar(9)x2,mar(13/21)[34]/mar(1/5/19),mar(2),mar(4),mar(6),mar(9),mar(13/21)[11]/
mar(1/5/19),mar(2),mar(4),mar(6),mar(9),mar(10),mar(13/21)[5]
Chord blood: mar(1/5/19),mar(6),mar(9)[47]/mar(1/5/19),mar(6),mar(9),mar(13/21)[33]/mar(1/5/19),
mar(6),mar(9),mar(13/21)[20]