ChromosOmics - Database

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                                                  -  CHROMOSOME #7 -                                                 
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
07-
W-
p12/
1-1		 see 07-U-13
07-
W-
p11.?2/
1-1		 female/
20m		 PBL de novo 47,XX,+r[40]/
46,XX[12]		 r(7)(::p11.?2→
q11.23::)[38]/
r(7;7)(::p11.?2→q11.23:
:p11.?2→q11.23::)[2]*		 cep probes
ELN-probe		 see below {16} case 1
normal pregnancy but born at 39,5 weeks of gestation by caesarean section because of breech delivery. Birth weight: 2590g, length: 45 cm OFC: 33cm. Development was considered as normal up to 9 months, the age at which she was referred to neurologist for a motor developmental delay. 20 months said her first words but she was not able to walk alone; height and weight were at the 50th percentile except for the head circumference that was 50,5 cm (90th percentile). Physical examination showed broad forehead, asymmetrical facial appearance, plagiocephaly and short nose with anteverted nostrils; extremities long and slender. Audiograms performed at thirty month revealed a moderate deafness.
07-
W-
p11.2/
1-1		 see 07-U-14
***
07-
W-
p11.2/
1-2
°°°
 female/
1y		 PBL
(EKF-
cellbank)		 de novo 47,XX,+mar[13]/
46,XX[3]		 min(7)(:p12.2→
q11.21:)[5]/
r(7)(::p12.2→q11.21::)[2]/
r(7;7)(::p12.2→q11.21:
:p12.2→q11.21::)[1]
aCGH: 55.42-63.45 MB
CR-FISH: break in p distal from 52.90		 cenM; subcenM
aCGH;
UPD-test		 see below {24} case 5
{38} case 7
{49} case 3
Born at term (39th week) after a pregnancy complicated by repeated bleedings, birth weight 3390g, length 50cm, OFC 33cm. At 7 months statomotoric retardation, at 12 months sitting, no free walking at 26 months → DD.  At 13 months weight at 25~50th, length at 50~75th and OFC at 75th centile.
07-
W-
p11.2/
1-3		 see 07-U-15
07-
W-
p11.2/
1-4		 see 07-U-16
07-
W-
p11.2/
2-1		 see 07-U-17
07-
W-
p11.2/
2-2		 see 07-U-18
07-
W-
p11.2/
3-1		 female/
19y		 PBL de novo 47,XX,+r[56%]/
46,XX[44%]		 r(7)(:p11.2→q21.11:)
aCGH: 54.19-79.36 (hg?)		 aCGH low IQ, disturbed behaviour and a peculiar facial phenotype {44}
07-
W-
p11.?1/
1-1
°°°
 male/
9y		 PBL de novo 47,XY,+r[50]/
46,XY[50]		 r(7)(::p11.?1→
q11.23::)[48]/
r(7;7)(::p11.?1→q11.23:
:p11.?1→q11.23::)[2]*		 SKY; cep probes
ELN-probe		 see below {16} case 2
born at 34 weeks of gestation after an uneventful pregnancy; birth weight 2680g. At 16m able to walk, at 24m able to say first words. At 2 y hyperactivity, at 9y borderline performance, obesity and hyperactivity with fits of anger and speech difficulties that were partly resolved by speech therapy. At age of 11y hypertelorism and down slanting palpebral fissures; IQ scores were around 80 and school attendance was difficult but possible. Prader-Willi disease test was negative.
07-
W-
p11.1/
1-1		 female/
3y		 PBL
(EKF-
cellbank)		 de novo
47,XX,+mar[50%]/
46,XX[50%]
at 6y: mar in 84% of the blood cells.		 min(7)(:p11.1→q11.1:) cenM; subcenM; UPD-test see below {0} provided by Dr.Gillesen-Kaesbach, Schwinger, Germany
born 10 days preterm, 3040g, 47,5cm, head circumference 35cm; APGAR 6/8/9; tracheomalacia, corpus callosum agenesis, muscular hypotonia, developmental retardation; develops better with age - at 3y start of speaking but uses also sign language; partial deafness; nonetheless developmental delay, at age of 6 seizures; at 6.5y: height 110.5cm (2nd centile), head circumference 52.2cm (50th centile),[nbsp] weight 17kg (2nd centile), broad nasal bridge, deep sitting hairline anterior and posterior, hypopigmentation at breast and belly, additional hypoplastic mammilla right, dysplastic ears.
07-
W-
p11.1/
2-1
°°°
 female/
4m		 PBL
(EKF-
cellbank)		 de novo 47,XX,+mar[26]/
46,XX[14]		 see below cenM; subcenM; UPD-test see below {1} case 13
{20}
r(7)(:p11.1→q11.21:)[15]/r(7;7)(:p11.1→q11.21::p11.1→q11.21:)[4]/r(7;7;7;7)(:p11.1→q11.21::p11.1→q11.21::p11.1→q11.21::p11.1→q11.21:)[1]
FISH-data: RP11-3N2 (63.22 MB) on sSMC aCGH: 7p11.2-7q11.23 (56,115,171-74,208,699 MB), 2 copies
Except for reduced fetal movements and dietetically managed gestational diabetes during the last 8 weeks, pregnancy and delivery were normal. Born in 37th week of gestation, birth weight: 3,665 g, birth length: 54 cm, head circumference: 37 cm; APGAR 9/10/10. Hypotonia, poor sucking, reduced spontaneous movements, pale skin color, reduced cardiac efficiency due to aortic insufficiency and aortic root ectasia, atrial septum defect type II and a patent Ductus arteriousus. At 13 months the atrial septum defect was treated by interventional cardiac catheterization. At the age of 12 days was noted thin long hands and fingers, thin long feet and toes, broad nasal bridge, epicanthal folds, telecanthus, retrognathia, high arched palate, and dysplastic ears with prominent helix were present. Dilatated lateral ventricles and a plexus choroideus cyst were detected by ultrasonography of the brain. At the age of 13 weeks initially long fingers and toes were normal in length and the retrognathia was less pronounced. Hypotonia had improved by physiotherapy. Developmental gross motor milestones were achieved delayed: sitting at 12 months, crawling at 13 months. Hearing impairment as a result of recurrent inflammations of the middle ear. At the age of 14 months, able to utter some different sounds and to vary the tone pitch but she did not form double syllable-chains. Fine motor and grasping movements seemed to be age-appropriate. The infant is approximately 6 months delayed in psychomotor development.
07-
W-
p11.1/
2-2		 see 07-U-19
07-
W-
p11.1/
3-1
°°°
 female/
5y		 PBL n.a. 47,XX,+mar[50]/
46,XX[50]		 r(7)(::p11.1→q21.11::)
breakpoint in p: centromere
breakpoint in q: between 81.7 and 81.8 MB		 cep probes, BACs, aCGH; UPD-test see below {32}
at birth: 4030g (>97th centile), length 51 cm (75th centile) and OFC 36 cm (50th centile). No clinical symptoms in neonatal period. Motor development was slightly delayed: she was hypotonic at birth and was sitting at age of 9 months; walking abilities were in the normal range and since the age of 12 months, she could walk without support. However, speech was severely delayed: first words were not until 3 years of age, and her language skills were delayed with poor performances on the expressive side. No hearing loss. At 5 y language delay, weight24.8 kg (95th centile), height 114 cm (90th centile), and OFC 53 cm (97th centile). Flat face, high and prominent forehead, deep-set eyes, short nose, prominent nasal root close to frontal bone, short philtrum, thick columella, thin lips, relative microstomia with downturned corners, and low set ears, fingers had wide nails; a partial cutaneous syndactyly was present between 2nd and 3rd toe, hirsutism on the dorsal side of her limbs and a cafe´-au-lait macula on the abdomen. Her slightly retarded psychomotor development improved with time.
07-
W-
p11.1/
4-1
°°°
 male/
7y		 PBL n.a. 47,XY,+mar[50]/
46,XY[50]		 min(7)(:p11.1→q21.11:)
FISH-data: RP11-3N2 (63.22 MB) on sSMC		 cenM; subcenM learning difficulties, language disturbance and attention deficit {0} provided by Dr. Ana Barreta, Alges, Portugal
***
07-
W-
p11.1/
5-1
°°°
 male/
3y		 PBL n.a. 47,XY,+mar[50%]/
46,XY[50%]		 mar(7)(::p11.1→q11.23::)
array-CGH: 62.0-74.0MB		 aCGH
FISH; UPD-test		 see below {35}
pregnancy uneventful, birth measurements within normal range, motor milestones delayed (sitting achieved at 10 months and gait at 17 months). language markedly impaired (firstword at 27 months), deep mental retardation and particular behavioral troubles (alternation of periods of apathy and aggressiveness), autism . Facial dysmorphic was consistent with Williams Beuren Syndrome Critical Region (WBSCR) duplicated patients. Macrocephaly was also observed (+4SD). MRI showed non-specific posterior white substance anomaly andcardiac ultrasound was normal.
07-
W-
p11.1/
6-1 		female/
6y		 PBL n.a. 47,XX,+mar[4]/
46,XX[30] 		min(7)(:p11.1→q11.21:)
 cenM; subcenM abnormal {0} provided from Dresden, Germany
07-
W-
p10/
1-1
°°°
 male/
19y		 PBL
paternal
(35%)		 47,XY,+mar[100%] r(7)(::p10→q11.2::) midi, FISH-probe D7Z1; UPD-test see below {4} case B
{5} case I
{10} case 2
{41} referring to father
Progressive neurological findings (syncope, dystonia), mentally retarded (low performance), high narrow forehead, micrognathia, low set ears, down slating palpebral fissures, dental problems, long and slender fingers; development of the patient was considered as normal up to the age of 5y; Father normal.
07-
W-
p10/
1-2
°°°
 male and female/
3y and 4y		 PBL maternal (50%) 47,+mar[50%]/
46[50%]		 r(7).ish(q11.2+) FISH-probes: P7t1, wcp7, YAC D7S250; UPD-test see below {7}
Case 4a:
birth weights around 4400g, developmental delay, mild mental retardation, flat nasal bridge, prognathia, simply formed ears, down slating palpebral fissures.
Case 4b:
The first child (girl): born 44 weeks of gestation after a normal pregnancy and delivery by forceps extraction. Birth weight 4,650 g (~97th centile); bifid uvula, midline cleft palate. At 4 y developmental delay and an unusual face; motor milestones in the normal range; speech development considerably retarded; occipito-frontal circumference (OFC) 50.5 cm (50th centile), weight 19 kg (75th centile), length 106.6 cm (50-90th centile;. short forehead, flat face, high and broad nasal bridge, short nose, slight left, ptosis and epicanthus, short philtrum, small mouth, and low-set, posteriorly rotated and simply formed ears with a thick helix, right simian crease, genua valga. At age of 10 y: length 153.5 cm (90th centile), weight 48 kg (90th centile), and OFC 54.5 cm (98th centile). IQ tested with Wechsler Intelligence Scale for Children (WISC-R): verbal intelligence was 57; performance intelligence, 73.
Case 4c:
The second child (boy): delivery at term by cesarean section after a normal pregnancy. Birth weight 4,250 g (97th centile). At age of 23 m slow psychomotor development (delay of 6 m). At 3 years: speech development severely retarded; length 113 cm (~97th centile), weight 22 kg (~98th centile), and OFC 53.5 cm (98th centile). Face similar to that of his sister: short forehead, flat face, downward slant of the palpebral fissures, high and broad nasal bridge, short nose, short philtrum, small mouth, slight prognathia, and posteriorly angulated and simply formed ears with a truck helix .
Mother of boy and girl: speech difficulties of unknown origin when she was 2 years old, which were partly resolved by speech therapy; presently working as a housekeeper. low performance, speech is difficult to understand; length 170 cm (50-90th centile), weight 78 kg (90th centile), OFC 53.5 cm (2nd-50th centile). Facial traits similar to those of her children: short forehead, flat face, high and broad nasal bridge, simply formed, posteriorly angulated ears, prognathia. palpebral fissures horizontal.
***
07-
W-
p10/
1-3
°°°
 female/
4y		 PBL de novo 47,XX,+r[50]/
46,XX[50]		 r(7)(::p10→q11.23::)*
61.8 to 77.11MB
(sSMC derived from a maternal chromosome 7)		 SKY; subcen-probes;
aCGH; UPD-test		 see below {15}
Normal pregnancy and birth; normal birth weight; at birth bilateral pes adductus - resolved after physiotherapy; hypotonia; recurrent middle ear infections from age of 3 m; developmental delay, walking at 2y, at 3 y severely retarded speech development and delayed motor milestones (at 4y only speaking a few words). At 4y normal appearance with minor facial dysmorphism: strabismus, thin lips, low set, posteriorly rotated ears with a thick over folded helix; severe delay of motor development and mental dev. delay of ~17months; an MRI scan of the brain demonstrated wide ventricles and prominent basal cisterns. Ophthalmologic examination revealed bilateral tortuous retinal vessels and esotropia of the right eye.
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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
07-
W-
IMB-p13/
1-1
°°°
 female/
6y
PBL 		maternal 46,XX,dup(7)(p13p12.1) wcp 6, BACs borderline MR , minor anomalies with growth retardation {29}
07-
W-
IMB-p13/
1-2
°°°
 female/
5y
PBL 		de novo 46,XX,dup(7)(p13p12.1) wcp 6, BACs borderline MR , minor anomalies with growth retardation {30}

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
07-
CW-
1
male/
12y 		PBL de novo 47,XY,+mar[100%] r(7) FISH-probes D7Z1;
(WBS) 		see below {8}
birth weight 2858g, speech delay, MR (IQ 69); no growth retardation at age of 12; epicanthal fold, low set ears, long philtrum; dental problems, long and slender fingers and extremities with hyper extensibility; no palpable testis
07-
CW-
2 		male/
 7m 		PBL de novo 47,XX,+mar[100%] r(7)[86%]/
r(7;7)[14%] 		different FISH-probes: telomeric probe; all centromeric probes in an array; GATA 4 in 8p23.1, UPD-test severe DD, seizures {9} case 4
07-
CW-
3 		n.a./
 prenatal 		AF de novo
47,+r[?] 		r(7) FISH with ? probes; UPD-test Ultrasound was normal in week 22; however,TOP; autopsy revealed some external and internal abnormalities {19}
07-
CW-
4
n.a./
 prenatal 		AF de novo 47,+mar[48%]/
46[52%] 		r(7) wcp7; cep7 see below {33} case 12
AMA. sonographic malformations: ambiguous genitalia, macrocephaly, TOP; Fetopathology: facial dysmorphism: macrocephaly, microretrognathism, micropenis
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