ChromosOmics - Database

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                                                  -  CHROMOSOME #17 -                                                 
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 - no sSMC
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(17)mat UPD(17)pat UPD(17)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
17-
U-
1		 see mult 2-8
17-
U-
2		 n.a./
postnatal?		 PBL? n.a. 47,+mar[2%]/
46[98%]		 min(17)(:q?→p1?2:)* n.a. n.a. {13}
17-
U-
3
 n.a./
prenatal		 AF n.a. n.a. min(17)(:p11.?2→q11.2~12:) acro M; M-FISH AMA; no clinical details available {10} case 14
17-
U-
4		 male/
prenatal		 AF, PBL
(EKF-
cellbank)		 de novo 47,XY,+mar[100%] dic(17)(:p11.1→q11.1:
:q11.1→q11.2:)		 cenM, subcenM AMA, born in week 37+ 5, mature newborn, slight musc. hypotonia, initially problems with respiration, no DYS ; birth weight 2650g; length 48cm, OFC 33cm {0} provided from Germany
17-
U-
5
 male/
prenatal		 AF de novo
47,XY,+mar[18]/
46,XY[7]		 min(17)(:p11.1→q11.1:) cenM, subcenM; UPD-test AMA, repeated aborts, no information on newborn {0} provided from Germany)
17-
U-
6		 see mult 2-27
17-
U-
7
 see McCl-17-U-p10/1-1
17-
U-
8		 female/
prenatal		 AF de novo 47,XX,+mar[100%] min(17)(:p11.1→q11.2:)
aCGH: 21,028,000-22,130,000		 cenM, subcenM AMA; sonography normal; TOP {0} provided from USA
17-
U-
9
 emale/
prenatal		 AF de novo 47,XY,+mar[100%] min(17)(:p11.1→q12:)
aCGH: 22.05-33.96 MB
midi aCGH: 28,404,609-30,001,780 MB		 midi, subcenM, aCGH amniocentesis due to handicapped child in first pregnancy; After sSMC detection TOP; no autopsy; child without visible malformations. {0} provided from Germany
17-
U-
10		 female/
prenatal		 AF n.a. 47,XX,+mar[10]/
46,XX[12]		 min(17)(:p11.1→q11.1:) cep, MLPA AMA {50} case 19
17-
U-
11		 female/
7y		 PBL de novo 47,XX,+mar[40]
aCGH: del 57.37-58.21MB
sSMC derived from a maternal chr. 17		 min(17)(:p11.2→q11.1:)*
aCGH: 20.40-22.00 MB		 FISH, aCGH IUGR; postnatal growth retardation, DD, hearing loss, slight  DYS {55}
17-
U-
12		 see 17-Ud-1
17-
U-
13		 female/
prenatal		 AF de novo 47,XX,+mar[32]/
46,XX[8]		 min(17)(:p11.2→q11.1:) aCGH AMA, TOP {58; 71} case 4
17-
U-
14		 female/
prenatal		 AF n.a. 47,XX,+mar[59]/
46,XX[50]		 min(17)(:p11.1→q11.1:) cenM, subcenM abnormal serum screening - no further info {0} provided from Portugal
17-
U-
15		 female/
prenatal		 AF n.a. 47,XX,+mar[40%]/
46,XX[60%]		 r(17)(::p1?1.2→q1?1.2::) cenM normal in sonography; no further info available {0} provided from Serbia
17-
U-
16		 female/
prenatal		 AF/ PBL n.a. AF: 47,XX,+mar[6]/
46,XX[58];
PBL: 47,XX,+mar[2]/
48,XX,+2mar[1]/
46,XX[38]		 min(17)(:p11.1→q11.2:) cenM, subcenM normal in sonography; no further info available {0} provided from Serbia
17-
U-
17		 female/
prenatal		 AF n.a. 47,XX,+mar[100%] min(17)(:p11.2→q11.1:) cenM, subcenM n.a. {0} provided from Portugal
17-
U-
18		 male/
prenatal		 AF n.a. 47,XY,+mar[100%] min(17)(:p11.2~p11.1→q11.1~11.2:)) cenM, subcenM minor sonographic findings {0} provided from Germany

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
17-
Uc-
1
male/
prenatal 		AF n.a.
 47,XYqs,+mar[15] der(17)t(17;acro) (q11;p11.2) wcp17; SMS-probe; cep17; ß-satellite probe see below {16; 59}
Amniocentesis due to ultrasound abnormalities like cleft lip/palate, multicystic kidneys, IUGR; child born at 38 weeks; APGAR 7/8/-; OFC 30.5cm, length 44cm, weight 2280g (all <5. percentile); two palpable fontanels, small pupils, almost shaped eyes, folded right ear, flat nasal bridge, right cleft lip, incomplete left cleft lip, short sternum, widely spaced nipples; testes descended, hydrocele, small phallus, digit camptodactyly of finger 2 and 3 on right hand; clinodactyly of finger 5 bilateral; transverse palmar creases; hydrocephalus; patent ductus arteriousus, bilateral hydronephrosis, kidney dysplasia, blindness, anemia, hypocalcaemia, metabolic acidosis; significant DD, hypotonia, severe growth retardation; child died at age of 7m due to an infection.
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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
17-
Ud-
1 		female/
5m 		PBL n.a. 47,XX,+mar[100%] mar(17)(:q11.1 or p11.1::q22→q23.3 or q22:)
aCGH: 22.37-24.32 MB 		cenM, subcenM,
aCGH 		mild DYS, macrocephaly, deep palmar creases, no feeding problems, normal head, heart and abdomen ultrasound, global DD, hypotonia, recurrent bronchiolitis {57; 61}
17-
Ud-
2
male/
5y 		PBL n.a. 47,XY,+mar[100%] see below cenM; subcenM; aCGH
NGS 		see below {0; 48; 72, case 4} provided from Greece
born after a 38 weeks uncomplicated pregnancy. Amniocentesis due to AMA was normal. At birth weight 2,800 g (10th centile), length of 50cm (50th centile) and head circumference = 34 cm (15th percentile), perinatal history was non-significant abnormal. At 2 months admitted to hospital because of urine tract infection; developmental milestones significantly delayed: sat unsupported at 12 m, walked unaided at 22 m, first words at 2.5 y. At 2 y 8 m speech and language delay. On physical examination he was a sociable child with mild dysmorphic facial and body features, (microcephaly, narrow palpebral fissures, small eyes, high-arched palate, low set ears, short hands and fingers and clinodactyly of the 5th finger) but severe global DD- overall developmental level equivalent to 16 months. neurological examination: severely hypotonic with microcephaly H.C. = 46cm (<2nd percentile). height 100 cm (60th centile) weight was 18 kg (75th percentile). MRI scan revealed a big arachnoid cyst near to cysterna magna. At 3.5y sociable child without behavioral difficulties; facial dysmorphic features more evident, especially small size of eyes, epicanthus and broad nasal bridge; functioning at 17 months developmental level with an IQ level less than 46. neurological examination: global hypotonia of trunk and limps and microcephaly HC= 47,6 cm (<2nd centile), but without focal neurological signs. height 107cm (75th centile), weight 20kg (90th centile); same situation at 4.75 y and 5.6 y

min(17)(:p11.2→p11.2::p11.1→q11.1::q11.2→q11.2:)aCGH: 16.9-19.89, 22.42-23.16 and 23.84-25.67 MBseq[GRCh37] der(17) (q11.2::p11.2->
 q11.2::p11.2)chr17:g. [26893603_28644215::22251490~_cen_26140775::AAAGGGTTAATTCTTTTATATGTTGTATTTTAGTAG::16958801_19954445]add
17-
Ud-
3
 		female/
prenatal 		AF n.a. 47,XX,+mar[16]/
46,XX[18]
 mar(17)(:p11.2→?q11.1::q24.3→q25.1x2:
:q25.1→q25.3:)
arr[hg19] 17p11.2(20,641,987-21,508,918)×3, 17q24.3q25.1(70,731,144
-72,248,511)×4,
17q25.1q25.3(72,248,511-
75,448,070)×3
 		aCGH DYS, TOP {73} case 74

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
17-
Uu-
1 		-
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