ChromosOmics - Database

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                                                  -  CHROMOSOME #10 -                                                 
ABNORMAL
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
10-
W-
pter/
1-1
 		male/
prenatal		 AF n.a. 47,XY,t(4;15)(p15.2;q21.2),+mar min(10)(pter→q22.1:) MCB AMA, abnormal FTS, hygroma colli, clubfoot
 {0}
10-
W-
pter/
2-1
 		female/
2y
 skin
PBL
 n.a. 47,XX,+mar[25-50%]/
46,XX[75-50%]
no sSMC in PBL
 inv dup(10)(q11.22)
aCGH: hg19?: break in 47.688677 Mb
 aCGH spontaneous intracranial hypotension secondary to congenital spinal dural ectasia; streaky skinpigmentary variation
{57}
10-
W-
p15/
1-1
°°°
 female/
9m		 PBL de novo 47,XX,+mar[35%]/
46,XX[65%]		 r(10)(::p15→q11.1::) wcp, cep see below {21}
growth retardation, global DD, MR, hypotonia, dolichocephaly, hypertelorism, down turned corners of the mouth, prominent cheeks, flat nasal root, micrognathia, severe joint laxity
10-
W-
p15.3/
1-1		 female/
10y		 PBL n.a. 47,XX,+mar[9]/
46,XX[56]		 r(10)(::p15.3→q11.22::) cep probes; subcenM-FISH, MCB see below {0} provided from Australia
mild intrauterine growth retardation in the last trimester; postnatal: initial feeding problems; later intellectual impairment; bilateral talipes equinovarus, slightly different facial features; OFC, height and weight described as average; slightly flat midface and rather prominent large ears;
10-
W-
p15.3/
1-2
°°°
 female/
1w		 PBL/
fibro		 de novo 47,XX,+mar[100%] min(10)(p15.3→q10:)* n.a. see below {20}
hypotonia, ventricular septal defect, right sided renal agenesis, dolichocephaly, wide sutures, upswept frontal hair-pattern, broad nasal root, inverted boarder of the lips, short neck, hypoplastic nails, bilateral talipes equinovarus
10-
W-
p15.3/
1-3
°°°
 female/
1w		 PBL mat
(karytype of mother: 47,XX,-10,+fis(10)(p10),+fis(10)(q10)
47,XX,+mar[100%]		 min(10)(p15.3→q10:)* wcp 10, cep 10 see below {43}
in pregnancy IUGR and oligohydramnios, birth weight 2,400 g (5th centile), length 47 cm (10th centile), head circumference of 33 cm (10th centile). neonatal : craniofacial dysmorphisms like: dolichocephaly with wide sutures/fontanelles, elongated face, high frontal hairline, hypertelorism, large ears, bilateral cleft lip and palate, apparently wide and flat nasal bridge, prominent cheeks. At 4 months: microcephaly, barrel shaped chest, marbled skin, secundum atrial septal defect (ASD), flexion contractures of large joints, and clubfoot anomaly, generalized hypotonia, growth and developmental delay. At12 months global developmental delay was established.
10-
W-
p15.3/
2-1		 female/
prenatal		 AF n.a. 47,XX+mar[7]/
46,XX[40]		 inv dup(10)(p11.1) wcp 10, cep 10 see below {51}
in prenatal ultrasound were enlarged cisterna magna and lower limb flexion contractures which resembled clubfeet; multiple congenital anomalies including megacisterna magna, echogenic focus of the left ventricle, umbilical cord cysts, and distal arthrogryposis
10-
W-
p12/
1-1
°°°
 male/
15y		 PBL n.a. 47,XY,+r[19%]/
46,XY[10%]		 r(10)(::p12→q10::)
midi
FISH:D10Z1; UPD-test		 mild mental retardation, pre- and post-natal growth retardation, cleft lip and palate, and mild facial dysmorphism {2} case M
{3}
10-
W-
p11.23/
1-1		 see McCl-10-W-p11.23/1-1
10-
W-
p11.23/
1-2
°°°
 female/
prenatal		 AF de novo 47,XX,+mar[3]/
46,XX[7]		 min(10) (:p11.23→q11.21:)*
~6.9 MB in p and ~0.7 MB in q in euchromatin		 pericentric BAC-set ? AMA, then pre term delivery; failure to thirve, dysmorphsim, neonatal hypotonia {46} case 4
10-
W-
p11.22/
1-1
°°°
 female/
1y		 PBL de novo 47,XX,+mar[15]/
46,XX[5]		 min(10) (::p11.2→q11.1::)*
31.65-38.70 MB		 aCGH urogenital abnormalities, left hypoplastic kidney, vaginal atresia {40} case P-6
***
10-
W-
p11.22/
1-2
°°°
 male/
prenatal		 AF n.a. 47,XY,+mar[5]/
46,XY[19]		 min(10) (::p11.22→q11.1::)*
aCGH: 34.46-38.69		 aCGH AMA; born with tetralogy of Fallot {44} case 11
10-
W-
p11.22/
2-1
°°°
 female/
prenatal		 AF n.a. 47,XX,+mar[19]/
46,XX[56]		 min(10) (::p11.22→q11.1::)*
aCGH: 31.65-38.69		 aCGH horseshoe
kidney		 {44} case 12
10-
W-
p11.2/
1-1
°°°
 female/
12y		 PBL/oral mucosa de novo 47,XX,+mar[8]/
46,XX[48] in PBL (in OM sSMC in 16%)		 r(10) (::p11.2→q11.1::)*
midi, wcp 10, cep 10 , UPD-test
see below		 {19}
uneventful pregnancy; birth length 51 cm and weight 3120 g. At 6 months thrombocytopenia. At 12 y admission diagnose sex chromosome aberration: length 132.5 cm (2 cm below the 3rd centile), weight 25.8 kg (4 kg below the 3rd centile), skeletal age ~2 y delayed; no signs of puberty. IGF1 levels decreased, growth hormone levels in normal range. normal intelligence, but attention deficit disorder.
10-
W-
p11/
1-1
°°°
 female/
prenatal		 AF/PBL de novo 47,XX,+mar[24]/
46,XX[26] in PBL (in AF 13:15)		 min(10) (:p11.1→q11.2:)*
FISH-data: RP11-178A10 (42.32) on sSMC		 subcenM at 1y height 90-95th centile, other values normal; at 2y oral dyspraxia {18}

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

case no.
 		gender/
age at diagnosis
studied
material
 		de novo/
inherited
 		GTG-banding and final FISH result
 		test
methods
 		clinical symptoms
 		Reference
10-
 W-
IMB-
p15/
1-1 to 1-61
 		female/
prenatal		 AF de novo 46,XX,der(10)(pter→q10::q10→p15:
:q11.2→qter)		 wcp 10
 normal songraphy; TOP
60 cases trisomy 10p reviewed
 {54}
10-
 W-
IMB-
p13/
1-1
°°°
 female/
21y		 PBL de novo 46,XX,dup(10)(p11p13) n.a. severely MR, autistic and aggressive behavior, minor dysmorphism, skin syndactyly of fingers and toes {32}
10-
W-
IMB-
p13/
2-1
°°°
 female/
4y		 PBL de novo 46,XX,dup(10)(p11p13) n.a. conductive deafness, minor anomalies, MR {33}
10-
W-
IMB-
q11.1/
1-1 to
7-1		 male and female/
postnatal		 PBL de novo 46,dup(10)(q11.1q22) or
46,dup(10)(q21q22)		 wcp 10 see below {27} see also {34}
mild to moderate DDy, postnatal growth retardation, microcephaly, prominent forehead, small and deep set eyes, epicanthus, upturned nose, bow shaped mouth, micrognathia, thick and flat helices of the ears, and long, slender limbs. Severe ocular malformations are possibly part of the syndrome
10-
W-
IMB-
p13/
7-2
 		n.a./
n.a.		 n.a. n.a. 46,dup(10)(q11.1q22) n.a.  MR {53}
10-
W-
IMB-
q11.1/
8-1
°°°
 male/
postnatal		 PBL de novo 46,dup(10)(q11.1q11.21)
aCGH: 46.57-51.26MB		 aCGH see below {41} patient 2
corpus callosum hypoplasia, mild dilatation of subarachnoid areas and frontotemporal atrophy, severe central hypotonia, ataxia, triangular face, enlarged cranium cerebrale, bifid scrotum, cryptorchidism, ulnar deviation of both elbows, deep palmar creases of hands and feet and syndactyly of 2nd and 3rd toes bilaterally.
10-
W-
IMB-
q11.2/
1-1 to 1-6
°°°
 male/
at birth		 PBL de novo 46,XY,dup(10)(q11.2q22.3) n.a. see below {30}
birth weight after 42 weeks of gestation 2890g. clubfeet, retroflection of the head, laryngeal stridor, ASD, slight monolateral pyelectasy and dysmorphism. At 2 months bronchiolitis. At four months failure to thrive, moderate hypotonia. five add. cases reviewed
10-
W-
IMB-
q11.21
1-1
 		male/
3y		 PBL n.a. 46,dup(10)(q11.21q11.22) aCGH
FISH
  hypotonia, ataxia, DD, DYS
 {55}

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
10-
CW-
 1 		-
 		-
 		-
 		-
 		-
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