ChromosOmics - Database

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                                                  -  CHROMOSOME #2 -                                                 
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
02-
W-
p13/
1-1		 female/
prenatal		 AF de novo 47,XX,+mar[100%] mar(2)(::p13→q12::) FISH (not specified) Prenatally detected due to abnormal facies, single umbilical artery and diaphragmatic hernia. Child born but died 4 weeks after birth. {43}
02-
W-
p12/
1-1
°°°
 female/
13y		 PBL n.a. 47,XX,+mar[70%]/
46,XX[30%]		 min(2)(:p12→q11.2:) cenM
subcenM		 Behavioral problems, very mild mental retardation, hypermenorrhoe, hyperpigmentation colli. {0} provided by Dana Kantarska, Slovakia
02-
W-
p12/
2-1		 male/
11y		 PBL n.a. 47,XX,+mar[75%]/
46,XX[25%]		 min(2)(:p12→q12:) midi; SKY dwarphism, skeletal dysplasia, facial dysmorph; mentally normal {0} provided by Dr. Weimer, Kiel, Germany
02-
W-
p11.2/
1-1
°°°
 female/
10y
PBL		 de novo 47,XX,+mar[15] r(2)(::p11.2→q11.1::)
FISH-data: RP11-316G9 (89.7MB) on sSMC; RP11-303I4 (80.7MB) not on sSMC		 cenM
MCB
subcenM
no telomeric signals; BACs		 BOR syndrome like symptoms (i.e. craniofacial dysmorphism and dysplasia of the kidney) {0}
{1} case 7
{2} case 11
{3} case 1
{4} case 13
02-
W-
p11.2/
1-2
°°°
 male/
10y		 PBL de novo 47,XY,+mar[11]/
46,XY[10]		 min(2)(:p11.2→q11.1:)
FISH-data: RP11-303I4 (80.7MB); RP11-316G9 (89.7MB); RP11-271A22 = AC128677.4 (91.5MB) on sSMC		 cenM
MCB
subcenM
no telomeric signals; BACs; UPD-test		 see below {0}
{27}case 2
Pregnancy normal, delivery by Cesarean section, prolonged labor; birth w app. 2,500g after 34w of pregnancy. No major malformations (MRI-scan normal), good gross motor skills, good memory. Severe growth retardation, i.e. at 10y h: 118cm, w: 18kg; no effect of growth hormone NUTROPIN. Familial short stature present (mother 151cm; father 161cm, pat. grandmother: 147cm; sister of father 150cm; plus family history of diabetes). Severe DD for the speech (15 words in vocabulary). Treatment with RITALIN for 4 years for his ADHD patient. X ray of hand came back of bone age of 5y and 6y when he was 7y and 9y, respectively. Sitting at 9m, crawling at 11m, walking at 20m. At 15 puberty; i.e. facial hair develop and voice changed; still very small for age (weight ~45 pounds and 4 ft tall). Speech development: trying to repeat every word his parents say but still cannot complete a 3 word sentence; he can only write his name and address, but cannot read; physically very active. Good at computing.

02-
W-
p11.2/
2-1
 male/
18m		 PBL de novo 47,XY,+r[50%]/
46,XY[50%]		 r(2)(::p11.2→q14.1::) all available centromeric probes; midi see below {6}
At 18 m: DD, physical anomalies. Pregnancy unremarkable; delivery at 34 weeks of gestation. Birth w 2,800g, l: 50cm, HC: 32cm; feeding problems in early infancy; at age 12 m in association with a viral respiratory tract infection, seizures occurred, which continued following recovery from infection. sitting at 10 months, walked with support at 18 months, but no speech. W: 9.8 kg, l: 76 cm, HC: 45.5 cm- all below 10th centile; dolichocephaly, coarse hair, low-set ears, exophthalmoses, epicanthic folds, strabismus, depressed nasal bridge, high-arched palate, excess of skin on the neck, tapered fingers with mild clinodactyly, wide space between first and second toes, talipes varus on the right, muscular hypotonia + inguinal hernia.
02-
W-
p11.2/
3-1
female/
prenatal		 AF n.a. 47,XX,+mar[24]/
46,XX[10] 		min(2)(:p11.2→q11.2:) cenM; subcenM sonographic signs, oligohydramnion, short femur and abnormal placenta {0} provided by Dr. Huhle, Leipzig, Germany
02-
W-
p11.1/
1-1
°°°
 female/
postnatal		 PBL de novo 47,XX,+mar[30]/
46,XX[8]		 min(2)(:p11.1→q11.2~12.1:) M-FISH, CGH, HR-CGH;
subcenM		 see below {0} provided by Carme Fuster, Barcelona, Spain
Born at 39 weeks, normal pregnancy. APGAR 8/9; birth w: 3,500 g. At 10 days cardiac defect seen and possible situs inversus. At that time w: 3.390 g, l: 49.5 cm, HC: 33.5 cm. Hypotonia with cranial necrotic scar of 1 cm2, blepharophimosis, low-set ears, micrognathia, club-foot. MRI: slight cerebral atrophy, augmented subarachnoid space + small cerebellar lessions probably secondary to a hemorrhagic process. Echocardiography: situs inverses + dextrocardia + moderate perimembranous VSD. Abdominal ultrasonography showed complete situs inversus and bilateral duplication of the renal collecting system.
02-
W-
p11.1/
1-2
°°°
 n.a./
postnatal		 PBL n.a. 48,+marx2[25%]/
47,+mar[47%]/
46[28%]		 min(2)(:p11.1→q11.2:)*
distal clone RP11-676J11 (99.9MB)		 cep and wcp probes, array-CGH DD {24} case 1
{42} case 9
02-
W-
p11.1/
1-3
°°°
 female/
2y		 PBL de novo 47,XX,+mar[7]/
46,XX[43]		 min(2)(:p11.1→q11.2~12:)
in aCGH no euchromatin deteceted		 cenM
subcenM
aCGH		 see below {0} provided by Dr. Anna Ma Cueto-González, Barcelona, Spain
hypotonia, seizures, acute renal failure, globulous kidneys, low set ears, retrognathia, microcephaly, hands and feet in flexion, unccoordinated swallowing, gastroesophagial reflux, ischemic lesions on brain MRI
02-
W-
p11.1/
1-4
°°°
 female/
5y		 PBL n.a. 48,XX,+mar,+mar[~10%]/
47,XX,+mar[45%]/
46,XX[45%]		 min(2)(:p11.1→q11.2:) cenM
subcenM
dwarphism		 {0} provided by Dr. Hickmann, Essen, Germany
02-
W-
p11.1/
2-1
°°°
 n.a./
postnatal		 PBL de novo 48,+marx2[50%]/
47,+mar[41%]/
46[9%]		 r(2)(::p11.1→q12.1::)*
size ~9MB		 n.a.; subcenM with 3 BACs; aCGH see below {32} case 5
Cleft palate; language learning delay; mild dysmorphic features; as of first grade, the patient was in special resource classes for reading, language, and math; normal renal ultrasound .
***
02-
W-
p11.1/
2-2
°°°
 male/
prenatal
AF		 n.a.
47,XY,+mar[20]/
46,XY[10]		 min(2)(:p11.1→q12.1:)
aCGH: 94.89-103.47		 aCGH VSD and ASD and of aorta, TOP, autopsy; add. facial
dysmorphism		 {51} case 5
02-
W-
p11.1/
2-3
°°°
male/
7y		 PBL n.a. 47,XY,+mar[20]/
46,XY[10]		 r(2)(::p11.1→q12.1::) cenM; subcenM DD and seizures {0} provided by Dr. Miriam Guitart,Sabadell, Spain
02-
W-
p11.1/
2-4
°°°
 female/
3d		 PBL
cell line at ECACC CN0010		 n.a. 47,XX,+mar[100%] inv dup(2)(:q11.2→p11.1:
:p11.1→q11.2:)		 cenM
subcenM
Small omphalocoele but no dysmorphic features		 {22} case 4
02-
W-
p11.1/
2-5
°°°
 male/
7y		 PBL n.a. 47,XY,+mar[8]/
46,XY[22]		 r(2)(:p11.1→q11.2:)
cenM
subcenM		 Multiple malformations {0} provided by Dr. A. Polityko, Minsk, Belarus
02-
W-
p11.1/
2-6
 male/
3y		 PBL de novo 47,XY,+mar[70%]/
46,XY[30%]
 r(2)(:p11.1→q12.1:) aCGH DD, DYS, microcephaly
 {60} case 1
02-
W-
p11.1/
2-7
 male/
prenatal
 AF
PBL
 de novo 47,XY,+mar[13]/
46,XY[11]
PBL: 24/16
 min(2)(:p11.1→q12.1:)
aCGH: 95,53-102,83 Mb (hg19)
 aCGH; ceps; UPD-test
 malformed fetus with club hands on fetal ultrasound isolated bilateral radial dysplasia
 {62}
02-
W-
p11.1/
3-1
°°°
 male/
41y		 PBL n.a. 47,XY+mar[100%] min(2)(:p11.1→q11.1:) cenM; subcenM;
UPD test		 Multiple clinical abnormalities including dysmorphic face, mental retardation {0}
***
02-
W-
p11.1/
4-1
°°°
 male/
9y		 PBL de novo
47,XY+mar[40%]/
46,XY[60%]		 r(2)(::p11.1→q12.3:
:p11.1→q12.3::)
aCGH: 13.36MB gain		 cep and locus spec. probes; aCGH short stature, microcephaly, facial dysmorphism, bilateral cleft lip and palate, cryptorchidism, DD and autistiform behavior {47}
02-
W-
p11.1/
5-1
°°°
 female/
prenatal		 AF/
PBL		 n.a. 47,XX+mar[14]/
46,XX[11]		 r(2)(::p11.1→q21.2::)/
r(2)(p11.1→q21.2:
:p11.1→q21.2::)		 M-FISH;
MCB; UPD-test		 sonographic abnormalities; TOP; fetus with hypertelorism, epicantus, low set ears {49}
02-
W-
p11.1/
6-1
 female/
prenatal		 AF de novo
from trisomy 2
 47,XX+mar[30-60%]/
46,XX[70-40%]		 r(2)(::p11.1→q13::)
bp in q: 110.3Mb		 aCGH; FISH
 NIPT T2; IUGR, sSMC detected; TOP
 {63}
02-
W-
p10/
1-1
°°°
 male/
6y		 PBL mat
(r in 54% of PBL)		 47,XY,+r[80]/
46,XY[100]		 r(2)(::p10→q12::) different FISH probes + centromere near YACs {10};
UPD test		 see below {10}
Delivery in week 40 without complications; w: 3,020g, l: 49cm (both 25th centile); Later in infancy length and weight normal; at 6y psychotic illness + attention deficit, hyperactivity + stereotypic movements + mild MR microcephaly (<3rd centile), mild brachycephaly; long face, deep-set eyes, prominent nasal columella.
 Mother normal apart from minor dysmorphism consisting of small mandible, low-set ears, down slanting palpebral fissures and prominent nasal columella
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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
02-
W-
IMB-
q11.1/
1-1
°°°
male/
4y 		PBL de novo 46,XX,dup(2)(q11.1q13.2) wcp 2 and YACs for #2 cleft lip and cleft palate, multiple minor anomalies and developmental delay {36; 44}
02-
W-
IMB-
q11.2/
1-1
°°°
 female/
3.5y 		PBL de novo 46,XX,dup(2)(q11.2q14.2) n.a. see below {34}
Congenital glaucoma. rolled over at 4 months, sat unsupported at 12 months, walked at 16 months. At 38 months developmental levels were: gross motor 15 to 21 months, fine motor 15 to 21 months, social skills 27 to 33 months, and self-help skills 15 to 21 months. At 31 years of age, weight was 12 kg and her height was 89 cm (below the 5th centile). Skull was microcephalic (44.5 cm) and brachycephalic with depressed nasal bridge, nasal septum prominent and extended below the level of the nares; philtrum also prominent, mild clinodactyly but had no shortening of the fourth metacarpal bones. Her deep tendon reflexes were sluggish and muscle tone was decreased. She expressed no intelligible vocabulary.
02-
W-
IMB-
q11.2/
2-1
°°°
 female/
7y 		PBL de novo 46,XX,dup(2)(q11.2q21) wcp 2 and YACs for #2 moderate learning disability, facial dysmorphism
{37}
02-
W-
IMB-
q11.2/
3-1 		female/
37y 		PBL maternal 46,XX,der(8),ins(8;2)(p21.3;q21.1q11.2) wcp 2 and 8 mental retardation in mother and daughter {38}
02-
W-
IMB-
q11.2/
4-1
female/
prenatal 		AF n.a. 46,XX,trp(2)(q11.2q21) wcp 2 brain malformations, multicystic bladders, absence of right thumb, cleft palate {40}

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
02-
CW-
1
 male/
7.5y		 PBL de novo
47,XY,+r[30%]/
46,XY[70%]		 r(2) all available centromeric probes At birth weight 2.8kg, At 2.5y evaluated for autistic behavior; smiling at 4m, sitting at 8.5m, walking at 1y; no talking up to 2.5y; additionally hyperactive, ignoring people; behavioral problems {8;9} case 26
02-
CW-
2		 female/
2y		 PBL de novo 47,XX,+mar[100%] r(2)(q?) SKY; pcp 2q MR {16} case 1
02-
CW-
3
 female/
15y		 PBL de novo 47,XX,+mar[?100%] r(2) FISH (not specified) DD, minor dysmorphism (narrow forehead, brachycephaly, synophris, prominent nasal bridge {44}
02-
CW-
4
 n.a./
1y		 PBL n.a. 47,XY,+mar[100%] r(2) SKY DD
{48} case F0439968
02-
CW-
5
 n.a./
10y		 PBL n.a. 47,XX,+mar[100%] min(2) SKY short stature, pituitary dwarfism {48} case F0533491
02-
CW-
6
 n.a./
19m		 PBL n.a. 47,XY,+mar[100%] min(2) SKY delayed milestones, multiple congential anomalies {48} case F0549217
02-
CW-
7
 male/
8y		 PBL de novo 47,XY,+mar[52%]/
46,XY[48%]		 r(2)
cep		 delayed milestones, multiple congential anomalies {53}