ChromosOmics - Database

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                                                  -  CHROMOSOME #6 -                                                 
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
06-
W-
p21.2/
1-1		 see 06-U-8
06-
W-
p21.2/
2-1		 female/
prenatal		 AF, PBL de novo 47,XX,+mar[12]/
46,XX[3]
in PBL mar in 15 of 20		 r(6)(::p21.2→q11.2::)
aCGH: CT-2118F18 and RP11-43B19 still present on the sSMC		 all centromeric probes; wcp 6; aCGH see below {11} case 1
{21} case 56
{34} case 1
at birth postnatal height, weight and OFC <<5%, feeding difficulties, hydronephrosis, deviated septum, mild dysmorphic features, small for gestational age, DD, epilepsy, mild DYS
06-
W-
p21.2/
2-2		 male/
14y		 PBL n.a.
47,XY,+mar[12]/
46,XY[3]		 r(6)(p21.2q12)
aCGH (hg19): 37.22–64.10 		aCGH postnatal: seizures, visual + developmental delay, growth retardation, enhanced bone fragility, DYS, aneurysmal bone cysts {12}
06-
W-
p21.1/
1-1
°°°
 male/
1m		 PBL de novo 47,XY,+mar[13]/
46,XY[7]		 min(6)(:p21.1→q11:)*
sSMC derived from a normal maternal chromosome 6		 SKY; CGH; UPD-test see below {13; 22}
normal pregnancy, birth weight at 50th centile, and OFC at 10th centile due to premature fusion of cranial sutures - brachycephaly with mild plagiocephaly. At 18 m height and weight >50th centile; microcephaly, midface hypoplasia, advanced dentations, swirling pigmentary streaks in several skin areas - showing similar distribution like Blaschko lines in several areas; hyperactivity, language delay, normal motor development; at 2y 8m height 93cm (50th centile); weight 15.1kg (75-90th centile) OFC 46cm (3rd centile). Now still brachycephaly and round flat face with midface hypoplasia, unusually shaped ear tragus and thin upper lip. Mild psychomotor development delay. IQ borderline; increased activity, distractibility, poor attention span - hyperactivity (suggested ADHD). MRI at 2y detected global reduction of brain volume but no specific brain anomalies.
06-
W-
p12.3/
1-1		 male/
16y		 PBL n.a. 48,XY,+mar,+mar[8]/
47,XY,+mar[10]/
46,XY[3]		 see below cenM;
subcenM; MCB; aCGH		 delayed language and psychomotor retardation {38} case 4
r(6)(::p12.3→q12::)[2]/r(6)(::p12.3→q12::)x2[5]/min(6)(:p12.3→q12:)[9]/ min(6)(:p12.3→q12:)x2[2]/
min(6)(:p12.3→q1?2::q1?2→p12.3:)[1]/r(6)(::p12.3→q12::),r(6;6)(::p12.3→q12::p12.3→q12::)[1]
variant size acc. to BAC-FISH: 57.3-65.2MB and 48.8-63.4 MB; aCGH: 51.55-66.71 (test J); 61.97-75.73 (test C)
06-
W-
p12.3/
2-1
°°°
 male/
2y		 PBL n.a. 47,XY,+r[17]/
48,XY,+rx2[3]		 r(6)(p12.3q12)
aCGH (hg19): 45.97–64.27		 aCGH enhanced bone fragility (also in mother); obesity at 17 y and back pain; aneurysmal bone cysts; slight DYS {46} case 1
06-
W-
p11.2/
1-1
°°°
 male/
16y		 PBL n.a. 47,XY,+mar[60%]/
46,XY[40%]		 see below cenM/
subcenM; aCGH		 Lymphangiomatose of the skeleton plus mild facial dysmorphism and a relative microcephaly {38} case 4
{39} case Sm-3
min(6)(:p11.2→q11.1:)[92%]/inv dup(6)(:q11.1→p11.2::p11.2→q11.1:)[8%]; aCGH: 57.09-64.11
06-
W-
p11.1/
1-1
°°°
 male/
2y		 PBL
(EKF-
cellbank)		 de novo 48,XY,+marx2[59]/
47,XY,+mar[25]
46,XY[40]		 min(6)(:p11.1→q12:)* different FISH probes, micro satellite analysis; UPD-test see below {7} case 2
{18}
{23} case 4
Born at term by vaginal delivery after an uneventful pregnancy; birth weight 3150g (25th centile), length 56cm (90-97th centile), OFC 36cm (90-97th centile). APGAR 7 and 9 at 1 and 5 minutes, respectively. Congenital heart defect (VSD, PDA), muscular hypotonia, bilateral cryptorchidism, hypoplastic genitalia, mild dysmorphic facial features, such as mild hypotelorism, elongated philtrum, and thin lips. At age of six months VSD was operated successfully. PDA closed spontaneously in the first months of age. Corrective surgery for undescended testes, detected in the inguinal canals, carried out at the age of three years; operation was ineffective as the cryptorchidism relapsed after a couple of months. Psychomotor development retarded; sitting at 12 m, walking at 20 m, speech (first words) at 2 y (first sentences) at 5.5y. He lisps and speaks indistinctly. Logopaedic examination indicated labial and lingual dyslalia. manual skills are weak. He is left-handed and writes right-to-left. Some of the letters resemble a mirror reflection of the correctly written letters. Now, at the age of 9, he can write only single words: problems with longer concentration on a particular activity. The auditory and visual memories are poorly developed. Psychological examination showed an IQ of 56. Ophthalmologic examination revealed alternating convergent strabismus and binocular hypermetropia. At 9y: weight 46 kg (90-97th centile), height 135cm (50th centile) and OFC 56.5cm (above 97th centile). Mild dysmorphic features are noticeable, i.e. coarse face, thin upper lip and low posterior hairline border. The patient has small, hypoplastic penis and scrotum, flat feet with bilateral valgus first toes
***
06-
W-
p11.1/
2-1
°°°
 female/
12y		 PBL
(EKF-
cellbank)		 n.a. 47,XX,+mar[17]/
46,XX[3]		 see below cenM, subcenM
aCGH		 abnormal aggressive behavior, deep sitting ears, very slim {38} case 6
{0}
min(6)(:p11.1→q13:)[5]/r(6)(::p11.1→q13::)[2]/r(6)(::p11.1→q13::p11.1→q13::)[2]/r(6)(::p11.1→q13::p11.1→q13::p11.1→q13::p11.1→q13::)[1]/ inv dup(6)(:p11.1→q13::p11.1→q13:)[10]; BAC-FISH: 58.4-65.2MB aCGH 62,765,543-72,341,212 MB
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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
06-
W-
IMB-
p21.3/
1-1
°°°
 male/
newborn 		PBL de novo 46,XY,dup(6)(p12p21.3) wcp 6 see below {34}
cerebellar hypoplasia, dilated cerebral ventricles, choanal atresia, cloudy cornea, multiple minor abnormalities, developmental delay, died at 16 m
06-
W-
IMB-
p12.1/
1-1 and
1-2
°°°
female + male/
postnatal 		PBL paternal
(balanced) 		46,XX,der(12)(12pter→12q21.33::6p12.1→6p22.1::12q21.33→12qter) dir ins(12;6) pat n.a. see below {26} two cases
case 1: born by spontaneous vaginal delivery at the 40th week of a pregnancy with no remarkable elements. Few days after birth presence of several craniofacial dysmorphism associated with anal atresia. birth weight 2900 g (<50th percentile), length 47 cm (<25th percentile) head circumference 32 cm (<25th percentile). During the perinatal period respiratory distress with frequent cyanotic attacks and recurring respiratory infections, and feeding difficulties; slight general hypotonia. At 5 months: growth retardation, microcephaly, prominent occiput, narrow forehead, hypertrichosis and low hair line, close-set eyes, short palpebral fissures, long eyelashes, abnormally modeled ears, wide nasal bridge, bulbous nose with anteverted nares, long and prominent philtrum, small mouth with thin lips and micrognathia. At 2-1/2 years, her weight is 7 kg and height 77 cm, both values under 3rd percentile, her psychomotor development is severely delayed.
case 2: First cousin of case 1's father. The reproductive history reported two miscarriages, a girl born at term with several malformations, who died at 3 months, a girl born healthy, still living, and finally the baby we report.: born at full term, birth weight 2800 g, head circumference 34 cm (<50th percentile), abnormal sutures, absence of anterior fontanels, capillary angioma on forehead, small palpebral fissures, epicanthus, wide nasal bridge, bulbous nose, small mouth with thin lips, micrognathia, abnormally modeled ears, short limbs, overlapping fingers, talipes, bilateral hydrocele, phimosis, hypertonia, opisthotonus. Feeding problems and respiratory distress were also reported. This infant died at the age of 8 months, probably of pneumonia.
06-
W-
IMB-
q11/
1-1
°°°
 n.a./
postnatal 		PBL de novo 46,dup(6)(q11q15) wcp 6 craniofacial DYS , psychomotor retardation, cryptorchidism and hypospadias {31}

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
06-
CW-
1
male/
35y 		?according to {1;9} cell line at ECACC DD1329; which is obviously incorrect de novo 47,XY,+mar[29]/
46,XY[21] 		r(6) .ish(cep+;wcp6+) all centromeric probes; wcp 6; UPD-test see below {1} case 4
{9} case 4
severe MR, seizures, DYS; at 35y he has fits and shows no social behavior; thick lips with lower lip everted, scoliosis, truncal obesity, soft skin, lax joints, thick tapering fingers
06-
CW-
2 		see 06-W-p21.2/2-1
06-
CW-
3 		see +0Xm-06-1 {35, 41}
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