ChromosOmics - Database

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                                                  -  CHROMOSOME #3 -                                                 
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

03-
W-
p12.3/
1-1
°°°
 male/
5y		 PBL de novo 47,XY,+r[11]/
46,XY[9]

r(3)(::p12.3→q11.2::)
aCGH: 81.47-99.78 MB

 different FISH-probes; aCGH see below {49} case 5
global developmental delay, sagittal craniosynostosis, intermittent right eye extropia, small nares, small cupped-shaped ears, patent ductus arteriosus, scoliosis, small phallus and clinodactyly
03-
W-
p12.1/
1-1
 female/
prenatal		 AF de novo 47,XX,+mar[100%]

min(3)(:p12.1→q11.2:)
FISH-data: RP11-21I16 (96.01 MB) on sSMC

 cenM; MCB, subcenM see below {20}
Amniocentesis due to abnormal results in ultrasound scan in week 20; growth retardation of three weeks, oligohydramnion and dolichocephalos. In week 21 the fetus was spontaneously aborted. An autopsy was not performed
03-
W-
p12.1/
2-1
°°°
 female/
8y		 PBL
cell line at ECACC DD0767		 de novo 47,XX,+r[4]/
46,XX[46]

r(3)(::p12→q13.2::)[12%]/
r(3)(::p12→q13.2::p12→q13.2::)[12%]
FISH-data: RP11-21I16 (96.01 MB) on sSMC

 all centromeric probes; wcp 3;
cenM; subcenM; MCB;
UPD-test		 Mild developmental delay, short stature; suspicion of Turner syndrome; slow language {4} case 2
{12} case 2
{27} case 1
03-
W-
p11/
1-1		 see McCl-03-W-p11/1-1
03-
W-
p10/
1-1		 female/
1y		 PBL de novo 47,XX,+r[70%]/
46,XX[30%]		 r(3)(::p10→q11::) midi see below {9} case 1
child born with slight dysplastic features; muscular hypotonia and feeding difficulties in neonatal period; normal psychomotor development
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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
03-
W-
IMB-
q11.1/
1-1
°°°
male/
20m 		PBL mat
(intrachromosomal insertion in 3p26.2) 		46,XY,ins(3;3)(p26.2;p11.1p14.2) n.a. developmental delay, hypertelorism, facial dysmorphism, ptosis, simian crease, clinodactyly, hypotonia, growth retardation {41}

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
03-
CW-
1		 female/
2.5m		 PBL mat
(in 3% of PBL)		 48,XX,+2mar[50]/
47,XX,+r[36]/
46,XX[14]		 mar(3) .ish (wcp+, D3Z1+) wcp3; cep3 see below {10}
Uncomplicated pregnancy and delivery, APGAR 3/7; feeding difficulties, lethargy and arrest in linear growth at 10w of age. Dysmorphic signs with small nose, a tented upper lip and relative macrocrania; frontal bossing, anteverted nares; hypotonic with poor visual tracking; cerebellar astrocytoma was detected and removed, followed by 1y chemotherapy; delay in speech development; growth development continues along less than the 5th percentile.
03-
CW-
2
 n.a./
prenatal		 AF de novo 47,+mar[?%] r(3) n.a. abnormal sonography; TOP {44} 1 case
03-
CW-
3

 female/
7y		 PBL de novo 47,XX,+mar[17]/
46,XX[3]		 mar(3)(p?→q?) wcp 3 see below {47}
high triangular forehead, hypertrichosis, wide spaced eyes, ptosis, down-slanting palpebral fissures, strabismus, broad nasal root, very short nose with anteverted nares, short grooved philtrum, triangular mouth, high narrow palate, micrognathia, malformed ears with preauricular sinus on one of sides and skin lesions, corpus callosum agenesis and hydrocephaly, abnormal feet position.
03-
CW-
4
 male/
2y		 PBL n.a. 47,XY,+mar[?%]/
46,XY[?%]		 min(3) SKY
DD		 {50} case F0613262
03-
CW-
5
 male/
2y		 PBL n.a. 47,XY,+mar[100%] min(3) SKY delayed milestones {50} case F0732043