ChromosOmics - Database

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                                                  -  CHROMOSOME #7 -                                                 
UNCLEAR
 
Cases without clinical findings
 Similar imbalances – no sSMC
Cases with clinical findings
 		Similar imbalances – no sSMC
Cases without clear clinical correlation
 Cases with discontinous sSMC
Cases with complex sSMC
 Cases with UPD and sSMC
Cases with neocentromeres
 Similar imbalances
Tumor
 DISCLAIMER
In general 70% of sSMC carriers are clinically normal. The figures listed above

are based on the bias, that mainly clinically aberrant cases are studied and reported in literature!

UPD (uniparental disomy) cases: UPD(7)mat UPD(7)pat UPD(7)mat or pat

Cases with unclear clinical correlation (U)

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-
U-
1		 see 07-Uc-1
07-
U-
2		 n.a./
n.a.		 n.a. n.a. 47,+mar[?] mar(7) all centromeric probes n.a. {14} 1 case
07-
U-
3		 female/
prenatal		 AF n.a. 47,XX,+mar[40%]/
46,XX[60%]		 min(7)(:p11.2→q11.21:) cenM; subcenM Ultrasound was normal; however, TOP; no autopsy performed {0} provided from Israel
07-
U-
4		 male/
prenatal		 AF n.a.
47,XY,+mar[14]/
46,XY[7]		 min(7)(:p11.2-q11.1:
:q11.1→p11.2:)		 cenM; subcenM Ultrasound was normal; however,TOP ~23rd week of gestation; Note added: there was tomography of pregnant woman in first weeks of gestation. {0} provided from Greece
07-
U-
5		 see mult-2-26
07-
U-
6		 see +0Xm-07-1 {23} case 2
07-
U-
7		 n.a./
n.a.		 n.a. n.a. 47,+mar[?%] mar(7) centromeric probes no info available {25} 1 case
07-
U-
8		 male/
10y		 PBL n.a. 47,XY,+mar[13]/
46,XY[3]		 min(7)(:p11.2~11.1→q11.2:)
FISH data: breaks between 46.84-55.23 and 61.61-71.27		 cenM, subcenM, PCL-FISH no info available; patient has micropenis
{38} case 8
07-
U-
9		 male/
prenatal		 AF n.a. 47,XY,+mar[?100%] mar(7) cenM TOP - no info available {0} provided from Spain
07-
U-
10		 female /
10y		 PBL n.a. 47,XX,+mar[60%]/
46,XX[40%]		 min(7)(:p11.1→q11.23:) cenM; subcenM; UPD-test
see below		 {40}
Patient with problems in sex determination, uterus without ovaries, and external penis. Dense hair distribution on body (in the pubic). She has a big genital vagina, clitoris is very pronounced (large) and lift cornet. She hasn't testes. Barr body count 28%, progesterone 5.35 (normal up to 1.13 ng/ml), testosterone 210 (normal up to 100 ng %) and 17-ketosteroids 58.37 (normal up to 14 mg/24 hours). AGS - homozygote mutation in CYP21A2 gene; c.518T>A (p.Ile173Asn)
07-
U-
 11		 n.a./
prenatal		 AF n.a. 47,+mar[9]/46[11] or 47,+mar[3]/46[17] min(7)(:p11.1→q11.1~q11.21:) cenM, subcenM
aCGH		 no info available {0} provided from USA
07-
U-
12		 female/
prenatal		 AF n.a. 47,XX,+mar[?%]/
46,XX[?%]		 min(7)(:p11.1→q11.21~11.22:) cenM,
subcenM		 no info available {0} provided from Germany
07-
U-
13		 see 07-Uu-1
07-
U-
14		 see 07-Uu-2
07-
U-
15		 see 07-Uu-3
07-
U-
16		 see 07-Uu-4
07-
U-
17		 see 07-Uu-5
07-
U-
18		 see 07-Uu-6
07-
U-
19		 see 07-Uu-7
07-
U-
20		 male/
prenatal		 AF n.a. 47,XY,+mar[3]/
46,XY[22]		 mar(7) SKY Prenatal ultrasound with an unspecified kidney abnormality; no info available on phenotype at 2 y {37} case F043725
07-
U-
21		 see 07-Uu-8
07-
U-
22		 male/
4y		 PBL n.a. 47,XY,+mar[20%]/
46,XY[80%]		 min(7)(:p11.1→q11.1:) cenM,
subcenM		 see below {0} provided from France
At birth: weight: 3.860 kg; length: 52 cm, cranial perimeter: 37 cm; at 4 years: weight: 31.300 kg; height: 1m18 (=> + 2DS) cranial perimeter: 54 cm (=> +2.5 DS); walk at 11 months, no langage, urinary continence is acquired, autistic disorder, no dysmorphy, advanced statural growth (+2 DS), global delayed development
07-
U-
23		 female/
prenatal		 AF n.a. 47,XX,+mar[6]/
46,XX[4]		 min(7)(:p11.1→q11.1:) cenM,
subcenM		 NIPT test gave hint on trisomy 21
 {0} provided from Portugal

Cases with complex sSMC (Uc)

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-
Uc-
1
female/
1y 		PBL de novo 47,XX,+mar[100%] min(7)t(X;5;7) (p22.1;q35;p13q21) flow sorting and reverse paiAnting; locus specific probes see below {2; 3; 42}
{10} case 13
born at term; APGAR 3/?/10; 2900g, 47cm, 33cm; child with shrill cry, beaked nose, small palpebral fissures, micrognathia, high arched palate, right hand simian crease; during live severe growth retardation; at age of 20 no speech and severe mental retardation; weight of only 19 kg and 120 cm tall.
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 		-

Cases with discontinous sSMC (Ud)

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-
Ud-
1 		-
 		-
 		-
 		-
 		-
 		-
 		-
 		-

Cases with UPD (Uu)

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-
Uu-
1		 male/
4m		 PBL de novo 47,XY,+mar[4]/
46,XY[46]		 min(7)(:p13→p11.1:)
maternal
(iso-)disomy UPD 7
aCGH: 44,864,487- 57,562,142 MB		 cep probes
ELN-probe; UPD-test		 Dystrophy, DD; abnormal ears. {39} case Sm-4
{41}
07-
Uu-
2		 female/
5y		 PBL
(EKF-
cellbank)		 de novo 47,XX,+mar[15]
see below		 cenM; subcenM;
aCGH; UPD-test
NGS		 see below {49} case 2
{50} case sSMC7a
min(7)(:p11.2→q11.1:)
FISH-data: RP11-10F11 (56.45 MB) on sSMC
aCGH: 45.07-64.85
CR-FISH: break in p between 55.47 and 56,46 maternal (iso-)disomy UPD 7
seq[GRCh37] +der(7)(:q11.21q11.21::p11.2→]q11.21:) chr7:g.[63674966~_63681708::ATTTGTAAAAAAACTTT::62394403_63674966inv::57645143_cen_62050000]add
pre- and postnatal growth-retardation; height at age of 4.5 9cm below 3rd percentile, weight: 3kg below 3rd percentile; macrocephalus; macro cornea; Silver Russel syndrome confirmed by molecular genetics
07-
Uu-
3		 male/
1y		 PBL de novo 47,XY,+mar[9]/
46,XY[16]		 min(7)(:p11.2→q11.21:)*
maternal UPD 7		 centromere-near BACs, centromeric probe 7; UPD-test see below {21, 55}
Intrauterine growth retardation from 34th week of pregnancy → birth induced at 38 weeks of gestation; birth weight 2305 g (<3rd percentile), length 45 cm (<10th percentile) and OFC 34 cm (50th percentile). At 1y, growth retardation: length 68 cm (<3rd percentile), weight 5740 g (<3rd percentile) OFC 45 cm (10-25th percentile). Triangular face, large, low set ears and mild psychomotor retardation; could not roll over or sit up alone → Silver Russel syndrome signs.
07-
Uu-
4		 male/
36y		 PBL de novo 47,XY,+mar[22]/
46,XY[7]		 min(7)(:p11.2→q11.21:)*
maternal UPD 7		 centromere-near BACs, centromeric probe 7; UPD-test Myoclonus dystonia {34, 55}
07-
Uu-
5		 n.a./
n.a.		 PBL de novo 47,+mar[4%]/
46[96%]		 r(7)(::p11.2→q21::)*
maternal UPD 7		 centromere-probes, wcp 7; UPD-test IUGR, caesarean section in week 33 of gestation, Silver Russel syndrome; twin brother normal (dizygote) {26, 55}
07-
Uu-
6		 female/
20m		 PBL de novo 47,XX,+mar[27%]/
46,XX[73%]		 r(7)(::p11.1→q11.2?2::)*
maternal UPD 7		 FISH-probe wcp7; UPD-test see below {6, 11, 55}
birth weight 1020 g in week 34; intrauterine and postnatal growth retardation, no mental retardation (?); triangular face, micrognathia, hypertelorism, clinodactyly of 5th finger; Silver Russel syndrome confirmed by molecular genetics
07-
Uu-
7		 female/
6y		 PBL de novo 47,XX,+mar[?100%] r(7)(::p11.2→q11.23::)
aCGH: region 70.42-73.21 duplicated on ring
iso-UPD 7 of normal chrs. 7		 SNP-aCGH macrocephaly, DD, self injury behaviour {36}
07-
Uu-
8		 male/
3y		 PBL
(EKF-
cellbank)		 de novo 47,XY,+mar[75%]/
46,XY[25%]		 min(7)(:q11.1→p11.1:
:p11.1→q11.21:)
mat UPD 7 of normal chrs. 7		 cenM,
subcenM		 Silver Russel syndrome {0} provided from France
07-
Uu-
9		 female/
postnatal		 PBL de novo 47,XX,+mar[4]/
46,XX[12]		 min(7)(:p11.2→q11.21:)
aCGH: [GRCh37] 54,010,055-63,986,785
mat UPD 7 of normal chrs. 7		 aCGH Silver Russel syndrome {50} case sSMC 7c
07-
Uu-
10		 female/
postnatal		 PBL de novo 47,XX,+mar[27]/
46,XX[3]		 r(7)(::p22.1→q11.23::)
aCGH[GRCh37]
61,274,531-73,735,597
mat UPD 7 of normal chrs. 7		 aCGH Silver Russel syndrome {50} case sSMC7b