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CHROMOSOME 17 |
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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 |
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the probably non-dosage sensitive pericentric region of chromosome 17
SCHEMATIC CYTOGENETIC DEPICTION
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 |
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)(:p11.2→q11.1:) 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 |
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17-O- p11.2/ 2-1 |
see McCl-17-O-p11.2/2-1 | |||||||||
*** 17-O- p11.2/ 3-1 *** |
female/ prenatal |
AF | de novo | 47,XX,+mar[90%]/ 46,XX[10%] |
min(17)(:p11.2→q11.2:) 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)(:p11.1→q11.1:)* | 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 |
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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?1→q1?1::)* | centromeric probes, wcp 17 | amniocentesis due to advanced maternal age; normal at age of 3m | {25} case 30 | ||
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 |
see 17-Uc-1 | |||||||||
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)(pter→q11.1: :q11.1→pter) |
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)(:p12→q11.1:)* | 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)(::p12→q11::) | 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)(::p12→q11::)* | 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)(::p12→q11::)* | 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)(::p12→q12::) array: 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 |
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17-W- p12/ 4-1 |
female/ 4y |
PBL | de novo | 47,XX,+mar[5]/ 46,XX[50] |
min(17)(:p1?2→q1?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)(:p11.2→q11.1:)* 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)(:p11.2→q11.1:)* 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)(:p11.2→q10:)* 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)(:p11.2→q11.1:)* 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)(:p11.2→q11.1:) 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 |
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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- p11.2/ 3-4 |
male/ 4y |
PBL | de novo | 47,XY,+mar[21]/ 46,XY[5] |
mar(17)(:p11.2→q11.2:) aCGH [hg19]: 21.71-28.61 |
aCGH | speach delay (10 single words at 4y), lack of social competence, impulsive, agressive; motor mile stones normal | {0} provided by Dr. Kamphausen, Magdeburg, Germany | ||
17-W- p11.1/ 1-1 ° |
male/ 20m |
PBL | de novo | 47,XY,+r[8]/ 46,XY[12] |
r(17)(::p11.1→q21::) | 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)(:p11.1→q11.2:) 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)(:p11.2→p11.2: :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)(:p11.1→q11.2:) | 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)(:p11.1→q11.2:) 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)(:p11.1→q11.2:) 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/ 4-3 |
female/ 4y |
PBL | de novo | 47,XX,+mar[100%] | min(17)(:p11.1→q11.2:) aCGH: break in q at 27.71 Mb (hg19) |
FISH, aCGH | see below | {69} | ||
born after 36 wog: weight 2600 g (10th-25th percentile), length 47 cm (25th-50th percentile), OFC 32 cm (25th-50th percentile). At 2 months gastroesophageal reflux. Walking at 18 months; first words at 3 years. Craniofacial features: round face, microstomia, small chin and down-slanting palpebral fissures, small lobules of both ears, myopia and anisometropi, mild general hypotonia with hypoplasia of orbicular oris muscle and levatorangulioris muscle, supernumerary nipple on the left side, proximal placement of the thumbs and polycystic ovary, small hypopigmented skin lesion on right thigh.. Speech skills delayed for at least 1.5 years. Poor social interactions and severe hyperactivity. Once a year she is re-evaluated by the clinical geneticist. Her developmental abilities are constantly improving but are still delayed for her biological age. At the age of 4 she uses limited number of words in few-word sentences and understands simple commands. Her speech is sometimes still unclear and problems with hyperactivity persist. At 4.2 years developmental quotient to be 0.68, representing significant development delay. | ||||||||||
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)(:p11.1→q11.2:) aCGH: break in q 27.73MB (hg19) |
aCGH | VSD, DD and speech delay. | {67} | ||
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/ 2-2 |
male/ 3y |
PBL | de novo | 46,XY,ins(5;17)(p13.1;p12p11.2) | midi | multiple anomalies | {70} | ||
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 | ||
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 | |||||||||
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.?2→q11.2~12:) | acro M; M-FISH | Amniocentesis due to advanced maternal age; no clinical details available | {10} case 14 | ||
17- U-4 |
male/ prenatal |
AF PBL (EKF- cellbank) |
de novo | 47,XY,+mar[100%] | dic(17)(:p11.1→q11.1: :q11.1→q11.2:) |
cenM, subcenM | see below | {0} provided by Drs Schulze/Schmidt, Hannover, Germany |
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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)(:p11.1→q11.1:) | cenM, subcenM; UPD-test | advanced maternal age, repeated aborts, no information on newborn | {0} provided by Dr. Mehnert (Neu-Ulm Hannover, Germany) |
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17- U-6 |
see mult 2-27 | |||||||||
17- U-7 |
see McCl-17-U-p10/1-1 | |||||||||
17- U-8 |
female/ prenatal |
AF | de novo | 47,XX,+mar[100%] | min(17)(:p11.1→q11.2:) 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)(:p11.1→q12:) 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)(:p11.1→q11.1:) | 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)(:p11.2→q11.1:)* aCGH: 20.40-22.00 MB |
FISH, aCGH | IUGR; postnatal growth retardation, DD, hearing loss, slight facial dysmorphic signs | {55} | ||
17- U-12 |
see 17-Ud-1 | |||||||||
17- U-13 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[235]/ 46,XX[110] |
min(17)(:?p11.1→q1?2:) | BACs | advanced maternal age, TOP | {58} | ||
17- U-14 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[59]/ 46,XX[50] |
min(17)(:p11.1→q11.1:) | 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?1.2→q1?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)(:p11.1→q11.2:) | cenM, subcenM | normal in sonography; no further info available | {0} provided from Serbia | ||
17- U-17 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[100%] | min(17)(:p11.2→q11.1:) | cenM, subcenM | n.a. | {0} provided by Dr. Alves, Portugal |
||
Cases with complex sSMC (Uc)
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- Uc-1 |
male/ prenatal |
AF | 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. | ||||||||||
Cases with discontinous sSMC (Ud)
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- Ud-1 |
female/ 5m |
PBL | n.a. | 47,XX,+mar[100%] | mar(17)(:q11.1 or p11.1::q22→q23.3 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 | ||||||||||
Cases with UPD (Uu)
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- Uu-1 |
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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 |
see PsMcCl-17-O-q22/1-1 | |||||||||
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} | |||||||