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

- sSMC -

CHROMOSOME 17

References

 

             
  Cases without
clinical findings
5 Cases with
clinical findings
27 symptoms  
  similar imbalances - no clinical findings similar imbalances with clinical findings  
  Cases with
unclear clinical correlation
Cases with
neocentromeres
1 tumor
0
 
  similar imbalances  
      DISCLAIMER      

In general 70% of sSMC carriers are clinically normal. The figures here
are based on the bias, that mainly clinically aberrant cases are reported in literature!

           
  UPD (uniparental disomy) cases: UPD 17
mat
UPD 17
pat
UPD 17
unclear
 
           

 


the probably non-dosage sensitive pericentric region of chromosome 17


SCHEMATIC CYTOGENETIC DEPICTION

tl_files/tiny_templates/Bilder TL/sSMC/sSMC-17.jpg



SCHEMATIC MOLECULARGENETIC DEPICTION

acc. to UCSC Genome Browser on Human Mar. 2006 assembly [UCSC hg18, 2006]
and available BAC-data/ array-data from cases marked *** mentioned below [MB]

 

critical region 17.75 --- 18.68 uncritical region [22.10 centromere 23.20] uncritical region 23.32 --- 24.75 critical region

Below adapted for UCSC hg19, 2009

critical region 17.89 --- 18.74 uncritical region [22.20 centromere 25.80] uncritical region 26.32 --- 27.72 critical region

 


Clinical symptoms of centromere-near proximal imbalances

 

chromosomal region 17p - proximal 17q - proximal
symptoms
developmental delay 75 % 100 %
dysmorphic face 63 % 75 %
finger or toe/foot malformations 25 % 25 %
growth retardation 13 % 50 %
heart defect 13 % 0 %
hip problems 13 % 0 %
hypotonia 50 % 50 %
joint problems 25 % 0 %
mental retardation 25 % 25 %
microcephaly 13 % 0 %
overgrowth 13 % 0 %
scoliosis 13 % 25 %
seizures 13 % 0 %
vision impaired 0 % 33 %
number of cases (marked with “°” below) 8
4

 

 

References

Cases without clinical findings (O)

 

 
  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  
  17-O-
p11.2/

1-1
male/
40y
PBL de novo 47,XY,+mar[10]/
46,XY[5]
min(17)(:p11.2q11.1:)
FISH-data: RP11-746M1 (20.82) on sSMC
cenM;
subcenM
ICSI-patient of 40 years; primary sterility due to asthenospermia {1} case 25
{2} case shown in Fig. 10
{3} case 13
{43} case 94
{63} case 17-1
 
  17-O-
p11.2/

2-1
see McCl-17-O-p11.2/2-1
{20, 28, 29}  
  ***
17-O-
p11.2/

3-1
***
female/
prenatal
AF de novo 47,XX,+mar[90%]/
46,XX[10%]
min(17)(:p11.2q11.2:)
array: 18.68-23.32 MB
cenM;
subcenM, midi; array-CGH, UPD-test
at 2 years: Normal child - without malformations, dysmorphology nor delay of psychomotor development {0} provided by Joana Melo, Coimbra, Portugal  
  17-O-
p11.1/

1-1
female/
prenatal
AF de novo 47,XX,+mar[100%] min(17)(:p11.1q11.1:)* all cep probes and probes for 17p11.2 and 17p13.3 prenatal cytogenetics due to a previous child with Angelman syndrome; normal child born; normal at 18m {52}
{62} case 16
 
                     

 

O-Cases with similar imbalances NOT caused by sSMC (O-IMB)

none reported yet

 

O-cases with unclear/insufficient characterization of the sSMC (CO):

 

 
  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  
  17-
CO-1
female/
prenatal
AF de novo 47,XX,+mar[36]/
46,XX[17]
r(17)(::p1?1q1?1::)* centromeric probes, wcp 17 amniocentesis due to advanced maternal age; normal at age of 3m {25} case 30  
                     

 


References

Cases with clinical findings (W)

 

 
  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  
  17-W-
p13.3/
1-1
male/
prenatal
AF de novo 47,XYqs,+mar[15] der(17)t(17;acro) (q11;p11.2) wcp17; SMS-probe; cep17; ß-satellite probe see below {16; 59}  
Amniocentesis due to ultrasound abnormalities like cleft lip/palate, multicystic kidneys, IUGR; child born at 38 weeks; APGAR 7/8/-; OFC 30.5cm, length 44cm, weight 2280g (all <5. percentile); two palpable fontanels, small pupils, almost shaped eyes, folded right ear, flat nasal bridge, right cleft lip, incomplete left cleft lip, short sternum, widely spaced nipples; testes descended, hydrocele, small phallus, digit camptodactyly of finger 2 and 3 on right hand; clinodactyly of finger 5 bilateral; transverse palmar creases; hydrocephalus; patent ductus arteriousus, bilateral hydronephrosis, kidney dysplasia, blindness, anemia, hypocalcaemia, metabolic acidosis; significant developmental delay, hypotonia, severe growth retardation; child died at age of 7m due to an infection.
  17-W-
p13.3/
2-1
female/
20m
PBL de novo 47,XX,+min(17)
(pter→q11:)[60%]
/ 46,XX[40%]
n.a. n.a. see below {17}  
pregnancy and birth uneventful; At 20m psychomotor retardation; frontal bossing; antimongoloid slant of eyes, small nose with wide nasal bridge, hypertelorism, narrow palpebral fissures, low-set ears, mild clinodactyly of right 5th digit; hypotonia
17-W-
p13.3/
3-1
n.a./
prenatal
fetus n.a. 47,XX,+mar[100%] der(17)(pterq11.1:
:q11.1pter)
aCGH early abortion {68}
  17-W-
p12/
1-1 °
female/
2y
PBL de novo 47,XX,+mar[70%]/
46,XX[30%] at age of
2y - at age of 8.5y mar present in only 50%
min(17)(:p12q11.1:)* CGH;
wcp17; D17Z1; Smith-Magenis- probe in 17p12
see below {4}  
pregnancy and delivery normal, antipodes anus in newborn period, suffered from severe constipation till age of 18 months; hypotonia and psychomotor delay from age of 9 months on; at age of 8.5y 125cm tall, 27.4kg and OFC of 52cm; squared face, somewhat bitemporal diameter with dolichocephaly shape of the skull, mildly down slating palpebral fissures, high arched palate; mild to moderately mental retarded.
  17-W-
p12/
1-2 °
male/
2.5y
PBL de novo 47,XY,+mar[51]/
46,XY[9]
min(17)
(:p12
q11.1:)
locus-specific FISH-probes as specified in {12} plus micro satellite markers; UPD-test see below {12; 14}  
Born in gestational week 41 by caesarean section; weight: 3350g, APGAR 3/6/8; developmental delay; significant feeding difficulties, oval face, large nose, prominent ears; moderate hypotonia
  17-W-
p12/
2-1 °
female/
2y
PBL de novo 47,XX,+r[6]/
46,XX[39]
r(17)(::p12q11::) different FISH-probes:
cep; wcp, SMS-probe in 17p11.2; MDS-probe in 17p13.3
see below {34} case 17  
Uneventful pregnancy; born at term by Caesarian section; Birth weight 3.6 kg. During neonatal period feeding difficulties and bilateral dislocation of the hips was noted. Concern first arose because of mild delay in acquisition of verbal skills at around 2y. At 3y limited vocabulary of 20-30 words; motor and skills also showed mild delay; head circumference and length fell on the 2nd and 50th centile, respectively.; bad folded helices, deep-set eyes, thin upper lip, ful1 lower lip, macroglossia macrostomia, maxillary hypoplasia, bilateral single transverse palmar creases, discrepancy in hand size, long narrow feet, generalized joint laxity, scoliosis abnormality.
  17-W-
p12/
2-2 °
n.a./
prenatal
PBL de novo 47,+mar[60%]/
46[40%]
r(17)(::p12q11::)* n.a.; subcenM 3 BACs see below {9}  
Clubbed feet on ultrasound; increased risk for Down syndrome on serum screen. No follow-up data available
  17-W-
p12/
3-2 °
female/
prenatal
AF and PBL de novo 47,XX,
+mar[27-41%]/
46,XX[73-59%]
r(17)(::p12q11::)* CGH; all cep, M-FISH - LSI SMS (latter not on mar) see below {47} case 4  
postnatal developmental delay, speech delay, left Totrocolis, left 3rd digit laxity, poor eye contact
  17-W-
p12/
3-3
male/
prenatal
CH de novo 47,XY,+r[75%]/
46,XY[25%]
r(17)(::p12q12::)
arr
ay: 11.18-30.66 MB
different FISH probes: cep17; wcp 17; array-CGH normal at birth; slightly retarded at age of 2y {0}
{8} case 11
 
  17-W-
p12/
4-1
female/
4y
PBL de novo 47,XX,+mar[5]/
46,XX[50]
min(17)(:p1?2q1?2:) cenM, subcenM growth and developmental delay; heart defect, unilateral hypoplasia of the iris; feeding problems, no speech, only assisted walking {0} provided by Jelena Ruml, Belgrade, Serbia  
  ***
17-W-
p11.2/
1-1 °
***
female/
prenatal
Amniocytes/
PBL
de novo 47,XX,+mar[72]/
46,XX[28] (in PBL)
min(17)(:p11.2q11.1:)*
17.75 MB - centromeric region
CGH;
locus-specific probes; micro-array
see below {21} case 1934  
mild developmental delay; small iVSD; abnormal EEG; at 4y height 97th centile, weight 50th centile and OFC 97th centile; some minor dysmorphism in the face and long fingers.
  17-W-
p11.2/
1-2 °
male/
5y
PBL n.a. 47,XY,+mar[20] min(17)(:p11.2q11.1:)*
20.07 MB - centromeric region
SKY; locus-specific probes, array CGH see below {21} case 2170  
at birth OFC at 10th centile and weight ~30th centile; postnatal weight ~5th centile; delayed speech and language development; at 5y dwarphism, clinodactyly of 5th finger, joint laxity and mild hypotonia
  17-W-
p11.2/
2-1 °
female/
7y
PBL de novo 47,XX,+mar[48]/
46,XX[2]
min(17)(:p11.2q10:)* PMP22-; SMS+ n.a.;
locus-specific probes
see below {22; 26}  
mental retardation, developmental delay, language impairment, sleep disturbances, mild hypotonia during childhood; seizures since age of 4y; no significant behavioral abnormalities or dysmorphic features.
  17-W-
p11.2/
2-2
female/
n.a.
PBL de novo 47,XX,+mar[8]/
46,XX[12]
min(17)(:p11.2q11.1:)* SMS+ n.a.;
locus-specific probes
abnormal {56}  
  17-W-
p11.2/
2-3 °
female/
4y
PBL n.a. 47,XX,+mar[60%]/
46,XX[40%]
min(17)(:p11.2q11.1:)
aCGH: 8.5 MB gain
aCGH see below {66}  
  developmental delay, language impairment, symptomatic epilepsy, behavioral problems, congenital corneal opacity of the right eye, and dysmorphic features mimic PLS facial appearance  
  17-W-
p11.2/
3-1
male/
7y
PBL de novo 47,XY,+mar1[2]/
47,XY,+mar2[1]/
46,XY[22]
r(17)
(::p11.2
q11.2::)[1]/
min(17)(:p11.2
q11.2:)[1]/
min(17)(:p11.2
q11.1:)[2]
cenM,
subcenM
Small stature, requested for 22q11 testing. {0} provided by Dr. J. Vermeesch,
Leuven, Belgium
 
  17-W-
p11.2/
3-2
female/
6y
PBL de novo 47,XX,+mar[15]/
46,XX[5]
r(17)
(::p11.2
q11.2::)
aCGH: 20.95-23.98
also dup2p23.3p22.3 mat
different FISH-probes, sCGH Global developmental delay, tall stature and large size {54} case 9  
  17-W-
p11.2/
3-3
male/
22y
PBL n.a. 47,XY,+mar[82%]/
46,XY[18%]
r(17)
(::p11.2
q11.2::)
aCGH: 21.20-27.80
aCGH
cep 17
Tourette syndrome; ADHD and intellectual disability
{64; 65}  
  17-W-
p11.1/
1-1 °
male/
20m
PBL de novo 47,XY,+r[8]/
46,XY[12]
r(17)(::p11.1q21::) different alpha satellite probes; midi see below {19}  
patient born 3w prematurely after normal pregnancy; birth weight 2400g; developmental delay; never developing speech; severe respiratory allergies, asthma, croup, ear infections; scoliosis; calcaneovalgus deformity of feet, bilateral cataracts at 22y, hypoplastic optic nerves, dematerialized bone structure; at 38y profound mental retardation - IQ 20; OFC at 10. centile; height and weight <5. centile; abnormal ears; heart murmur; severe kyphoscoliosis; hypotonia.
  ***
17-W-

p11.1/
2-1 °
***
male/
newborn
PBL n.a. 47,XY,+mar[13]/
46,XY[17]
min(17)(:p11.1q11.2:)
aCGH: 23,086,100-32,754,790 MB
cenM; subcenM;
aCGH
developmental delay {0} provided by Jasen Anderson, Brisbane, Australia  
  17-W-
p11.1/
2-2
male/
5y
PBL n.a. 47,XY,+mar[100%] min(17)(:p11.2p11.2:
:p11.1
q11.1:
:q11.2
q11.2:)
aCGH: 16.9-19.89, 22.42-23.16 and 23.84-25.67 MB
cenM; subcenM; aCGH see below {0; 48} provided by Manolakos E., Thomaidis L. and Lagou M. Athens, Greece  
born after a 38 weeks uncomplicated pregnancy. Amniocentesis due to advanced maternal age was normal. At birth weight 2,800 g (10th centile), length of 50cm (50th centile) and head circumference = 34 cm (15th percentile), perinatal history was non-significant abnormal. At 2 months admitted to hospital because of urine tract infection; developmental milestones significantly delayed: sat unsupported at 12 m, walked unaided at 22 m, first words at 2.5 y. At 2 y 8 m speech and language delay. On physical examination he was a sociable child with mild dysmorphic facial and body features, (microcephaly, narrow palpebral fissures, small eyes, high-arched palate, low set ears, short hands and fingers and clinodactyly of the 5th finger) but severe global developmental delay - overall developmental level equivalent to 16 months. neurological examination: severely hypotonic with microcephaly H.C. = 46cm (<2nd percentile). height 100 cm (60th centile) weight was 18 kg (75th percentile). MRI scan revealed a big arachnoid cyst near to cysterna magna. At 3.5y sociable child without behavioral difficulties; facial dysmorphic features more evident, especially small size of eyes, epicanthus and broad nasal bridge; functioning at 17 months developmental level with an IQ level less than 46. neurological examination: global hypotonia of trunk and limps and microcephaly HC= 47,6 cm (<2nd centile), but without focal neurological signs. height 107cm (75th centile), weight 20kg (90th centile); same situation at 4.75 y and 5.6 y.
  17-W-
p11.1/
3-1
male/
postnatal?
PBL? n.a. 47,XY,+mar[93%]/
46,XY[7%]
mar(17)(:p11.1q11.2:) array-CGH abnormal {49} case 30218  
  17-W-
p11.1/
4-1 °
male/
2y
PBL; buccal mucosa de novo 47,XY,+mar[35]/
46,XY[52]
in buccal muccosa: sSMC in 32%
min(17)(:p11.1q11.2:)
aCGH: size ~10MB
FISH, ceps and RAI1
aCGH
short stature, minor facial dysmorphic features and developmental delay (especially speech delay); Potocki-Lupski syndrome {51} case 1  
  ***
17-W-
p11.1/
4-2 °
***
female/
3y
PBL de novo 47,XX,+mar[100%] min(17)(:p11.1q11.2:)
aCGH: break in q at 27.72MB (hg19)
FISH, aCGH DD, facial abnormalities, gastroesophagial reflux, polycystic ovary, supernumerary nippel, hypotonia {60}  
  17-W-
p11.1/
5-2
male/
prenatal
AF/ PBL de novo AF:
47,XY,+mar[12]/
46,XY[15]
PBL:
47,XY,+mar[27]/
46,XY[13]
min(17)(:p11.1q11.2:)
aCGH:  break in q 27,73MB (hg19)
aCGH VSD, DD and speech delayups. {76}  
                     

 

W-Cases with similar imbalances NOT caused by sSMC (W-IMB):

 

 
  case no. gender/
age at diagnosis
studied
material
de novo/
inherited
GTG-banding result and FISH result incl. grade of mosaicism test
methods
clinical symptoms reference  
  17-W-
IMB-
p12
/

1-1
male/
prenatal
AF; PBL de novo 46,XY,der(21)t(17;21)(p12;p11.1) SKY see below {30}  
large cystic hygroma in 15 week of gestation; directly postnatal: aortic coarctation, left equinovarus deformity, bilateral dilated urethra, deep-set ears, prominent nasal tip, smooth philtrum, single transverse crease on right hand, redundant neck skin folds, length 25th centile, weight normal, OFC 75th centile. At 7months: weight <5th centile, length 5th centile, OFC 10th centile
  17-W-
IMB-
p12/

2-1 to
2.2
2 cases with partial trisomy 17p12→p11.2 are summarized in Ref {32-33} {32, 33}  
  17-W-
IMB-
p11.2
/

1-1
female/
5y
PBL de novo 46,XY,dup(17)(p11.2q11) n.a. see below {37}  
normal pregnancy, at birth weighing 3.035 kg, length 51 cm, head circumference 34 cm. cord wrapped tightly around neck causing cyanosis but was resuscitated easily -> APGAR score 8 at 2 min. At 3 months feeding difficulties and failure to thrive. Narrow palpebral fissures, antimongoloid slant to the eyes, large down-turned mouth, high arched palate and micrognathia, somewhat pointed ears, and muscular hypotonicity. At 2.5 years prolonged left-sided convulsion associated with a febrile illness. Delayed neurological development was noted at 9 months and subsequent development was retarded in all spheres. She walked at 3.5 years, and at 4 years verbal comprehension level was 1 05 years and her expressive language level was 1 04 years.
  17-W-
IMB-
p11.2/

2-1
male/
1.5y
PBL de novo 46,XY,dup(17)(p11.2p11.2) locus specific probes
Alport syndrome {36}  
  17-W-
IMB-
p11.2/

2-many
46,dup(17)(p11.2p11.2) - can also be Charcot Marie Tooth disease {38} and Potocki-Lupski syndrome {39}
see also {45}
{38; 39; 42, 45}  
  17-W-
IMB-
q11.1
/

1-1
male/
5y
PBL de novo 46,XY,dup(17)(q11.1q12)
aCGH: 22.66-35.06 MB
aCGH psychomotor delay and minor abnormalities {53}  
                   


W-cases with unclear/insufficient characterization of the sSMC (CW):

 

 
  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  
  17-
CW-1
female/
n.a.
PBL de novo 47,XX,+mar[94]/
46,XX[6]
min(17) different FISH-probes:
centromeric probe p17H8
see below {5}  
Delivery occurred after 32 weeks of gestation by cesarean section due to premature rupture of membranes. Birth weight 1,640 g; club feet, low birth weight, but no perinatal complications. Sitting without support at 10 m; walking at 13 m; speech was delayed and learning disabilities → school for handicapped children. Visual impairment due to myopia. At age 15 years, she presented with short stature (145 cm; <3rd centile), probably associated with hGH deficiency, and obesity (64 kg; 90th centile); short, broad neck, cubitus and  gena valga bilaterally; hands and feet small; clinodactyly of the 5th digits and slight radial deviation of both bands; hallucesbroad and short; gaps present between 1st and 2nd, and 2nd and 3rd toes; nails of the 5th toes were hypoplastic; skin thick and hyper pigmented in the cervical, axillary and inguinal areas. Face and body hypertrichosis; Sexual development normal.
  17-
CW-2
see 17-W-p12/3-3    
  17-
CW-3
female/
4y
PBL de novo 48,XX,+marx2[40%]/
47,XX,+mar[40%]/
46,XX[12%]
min(17) midi growth retardation, delayed speech development; muscle weakness {15} case C  
  17-
CW-4
n.a./
n.a.
n.a. n.a. 47,+mar[?%] mar(17) FISH with ? developmental abnormal {24} 1 case  
                     

 

 


References

Cases with unclear clinical correlation (U)

 

 
  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  
  17-
U-1
see mult 2-8 {7}  
  17-
U-2
n.a./
postnatal?
PBL? n.a. 47,+mar[2%]/
46[98%]
min(17)(:q?p1?2:)* n.a. n.a. {13}  
  17-
U-3
n.a./
prenatal
AF n.a. n.a. min(17)(:p11.?2q11.2~12:) acro M; M-FISH Amniocentesis due to advanced maternal age; no clinical details available {10} case 14  
  17-
U-4
male/
prenatal
AF
(EKF-
cellbank)
de novo 47,XY,+mar[100%] dic(17)(:p11.1q11.1:
:q11.1
q11.2:)
cenM, subcenM see below {0} provided by Drs Schulze/Schmidt,
Hannover, Germany
 
Amniocentesis due to advanced  maternal, born in  week 37+ 5, mature newborn, slight musc. hypotonia, initially problems with respiration, no dysmorphism; Birth weight 2650g; length 48cm, OFC 33cm
  17-
U-5
male/
prenatal
AF de novo 47,XY,+mar[18]/
46,XY[7]
min(17)(:p11.1q11.1:) cenM, subcenM; UPD-test advanced maternal age, repeated aborts, no information on newborn {0} provided by Dr. Mehnert (Neu-Ulm
Hannover, Germany)
 
  17-
U-6
see mult 2-27 {27} case 6  
  17-
U-7
see McCl-17-U-p10/1-1 {11}  
  17-
U-8
female/
prenatal
AF de novo 47,XX,+mar[100%] min(17)(:p11.1q11.2:)
aCGH: 21,028,000-22,130,000
cenM, subcenM advanced maternal age; sonography normal; TOP {0} provided by Genzyme, USA  
  17-
U-9
male/
prenatal
AF de novo 47,XY,+mar[100%] min(17)(:p11.1q12:)
aCGH:
22.05-33.96 MB
midi aCGH: 28,404,609-30,001,780 MB
midi, subcenM, aCGH see below {0} provided by Dr. Lange, Marburg, Germany  
  amniocentesis due to handicapped child in first pregnancy; After sSMC detection TOP; no autopsy; child without visible malformations.  
  17-
U-10
female/
prenatal
AF n.a. 47,XX,+mar[10]/
46,XX[12]
min(17)(:p11.1q11.1:) cep, MLPA amniocentesis due to advanced maternal age {50} case 19  
  17-
U-11
female/
7y
PBL de novo 47,XX,+mar[40]
aCGH: del 57.37-58.21MB
sSMC derived from a maternal chr. 17
min(17)(:p11.2q11.1:)*
aCGH:
20.40-22.00 MB
FISH, aCGH IUGR; postnatal growth retardation, DD, hearing loss, slight facial dysmorphic signs {55}  
  17-
U-12
female/
5m
PBL n.a. 47,XX,+mar[100%] mar(17)(:q11.1 or p11.1::q22q23.3 or q22:)
aCGH: 22.37-24.32 MB
cenM, subcenM,
aCGH
see below {57; 61}  
  mild dysplastic facial features, macrocephaly, deep palmar creases, no feeding problems, normal head, heart and abdomen ultrasound, global developmental delay, hypotonia, recurrent bronchiolitis
 
  17-
U-13
female/
prenatal
AF n.a. 47,XX,+mar[235]/
46,XX[110]
min(17)(:?p11.1q1?2:) BACs advanced maternal age, TOP {58}  
  17-
U-14
female/
prenatal
AF n.a. 47,XX,+mar[59]/
46,XX[50]
min(17)(:p11.1q11.1:) cenM, subcenM abnormal serum screening - no further info
{0} provided from Portugal  
  17-
U-15
female/
prenatal
AF n.a. 47,XX,+mar[40%]/
46,XX[60%]
r(17)(::p1?1.2q1?1.2::) cenM normal in sonography; no further info available {0} provided from Serbia  
  17-
U-16
female/
prenatal
AF/ PBL n.a. AF: 47,XX,+mar[6]/
46,XX[58];
PBL: 47,XX,+mar[2]/
48,XX,+2mar[1]/
46,XX[38]
min(17)(:p11.1q11.2:) cenM, subcenM normal in sonography; no further info available {0} provided from Serbia  
  17-
U-17
female/
prenata
l
AF n.a. 47,XX,+mar[100%] min(17)(:p11.2q11.1:) cenM, subcenM n.a. {0} provided by Dr. Alves, Portugal
 
                     

 


References

Cases with neocentromeres (N)

 

 
  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  
  17-N-
qt22/
1-1
male/
1w
PBL de novo 47,XY,del(17)(q22q23),+mar[100%] inv dup(17) (:q22q23:
:q23
q22:)
n.a. see below {18; 23; 35}  
small placenta, bifurcation at the base of the umbilical cord of 1cm in length; birth at 38 weeks of gestation; baby initially hypotonic; APGAR 3/6/10; sacral dimple with hair tuft over base of the spine, low set ears, high arched palate, bilateral undescended testes, slight hypotonia, high pitched cry, large open anterior fontanel, wide split between big ans 2. toe, syndactyly 2. and 3. toe
                     

 

N-Cases with similar imbalances NOT caused by sSMC (N-IMB):

 

 
  case no. gender/
age at diagnosis
studied
material
de novo/
inherited
GTG-banding result and FISH result incl. grade of mosaicism test
methods
clinical symptoms reference  
  17-N-
IMB-
pter/

1-1
to mult
11 case with trisomy 17p are summarized in Ref {31} -
(4 in ref {37}) see also {44}
{31, see also 37 and 40, 41}  
  17-N-
IMB-
q23/

1-1
to mult
see {46} {46}