ChromosOmics - Database

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                                                  -  CHROMOSOME #16 -                                                 
UNCLEAR
Specific PATIENTINFORMATION for sSMC(16) - part 1
Specific PATIENTINFORMATION for sSMC(16) - part 2
 
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(16)mat UPD(16)pat UPD(16)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
16-
U-
1		 see mult 2-11
16-
U-
2		 female/
prenatal		 AF de novo 47,XX,+mar[36]/
46,XX[19]		 ish mar(16)(D16Z1+) all centromeric probes Amniocentesis due to abnormal serum biochemistry; TOP; no obvious abnormalities in post-mortem examination {8} case 9
16-
U-
3
 female/
prenatal		 AF de novo 47,XX,+mar[40]/
46,XX[10]		 ish mar(16) (D16Z2dim; D16Z3+, wcp16-) all centromeric probes; wcp16 AMA; TOP {9} case 20
16-
U-
4		 male/
prenatal		 AF maternal
(mar in 15%)		 47,XY+mar[50%]/
46,XY[50%]		 r(16) FISH with all available centromeric probes n.a., as TOP {4} case 8
16-
U-
5
 female/
prenatal		 AF
fetal fibroblasts
and blood		 de novo 47,XX,+mar[2]/
46,XX[13]
sSMC not present in fetal blood; 21% of fetal fibroblasts with sSMC		 ish mar(16)(wcp16+) all wcp probes AMA; no ultrasound abnormalities; TOP; postmortem analysis revealed normal fetal phenotype {12}
16-
U-
6		 see 16-U-15
16-
U-
7		 male/
prenatal		 AF de novo 47,XY,+mar[60]/
46,XY[34]		 r(16)(::p1?1→q1?1.2::) wcp 16 probes
centromeric probes		 AMA; no ultrasound abnormalities TOP; postmortem analysis revealed normal fetal phenotype {21} case 11
16-
U-
8
 female/
prenatal		 AF de novo 47,XX,+mar[21]/
46,XX[17]		 r(16;16)(::p1?1→q1?1.2:
:p1?1→q1?12::)		 wcp 16 probes
centromeric probes		 AMA and anxiety; no ultrasound abnormalities; TOP; postmortem analysis not available {21} case 31
16-
U-
9		 male/
prenatal		 AF de novo 47,XY,+mar[9]/
46,XY[2]		 r(16;16)(::p11.1→q12.1:
:p11.1→q12.1::)
aCGH: 30.20-45.74 MB		 cenM; midi, aCGH; UPD-test AMA; no ultrasound abnormalities;TOP; autopsy: no dysmorphism. {0} provided from Germany
6-
U-
10
 male/
prenatal		 AF de novo 47,XY,+mar[6]/
46,XY[6]		 mar(16)(p13.1q12.2)* midi see below {23}
AMA and increased fetal nuchal translucency thickness in ultrasound in week 17 of pregnancy; termination of pregnancy; autopsy showed a male fetus with small, flat nose and broad nose bridge. Eyes, ears, mouth and palate were normal. The neck was broad. All body measurements were within normal limits for gestational age (weight:544 g; length: 20 cm; head circumference: 21 cm; femur length: 4.0 cm; foot length: 4.2 cm).
16-
U-
11		 n.a./
prenatal		 AF de novo 47,+mar[13]/
46[47]		 r(16) cep probes, wcp 16 AMA and abnormal triple test. TOP, no postmortem abnormalities detected {24} case 16
16-
U-
12		 male/
prenatal		 AF de novo 47,XY,+mar[100%] min(16)(:p11→q11.2:) cenM, subcenM AMA. Patient lost during follow-up {44} case 25
16-
U-
13		 female/
prenatal		 AF n.a. 47,XX,+mar[47]/
46,XX[5]		 min(16)(:p11.1~11.2→q11.1:) cenM, subcenM; UPD-test AMA. Patient lost during follow-up {0} provided from Germany
16-
U-
14		 male/
prenatal		 AF n.a. 47,XX,+mar[47]/
46,XX[5]		 min(16)(:p11.1→q11.1:) cenM, subcenM AMA. Patient lost during follow-up {0} provided from Germany
16-
U-
15		 n.a./
postnatal		 PBL de novo 47,+mar[85%]/
46,XX[15%]		 mar(16)(:p11.2→q11.2:)*
size p 0.7MB		 n.a.; subcenM with 3 BACs; aCGH see below {18}, {30} case 16
macroglossia, DYS, height, weight and OFC ~90 centile; mild gross motor delay, asymmetric lower extremities; clinical features suggestive of Beckwith-Wiedemann syndrome - testing for LIT1 methylation confirmed a diagnosis of BWS.
16-
U-
16
to 18		 n.a./
n.a.		 n.a. n.a. 47,+mar[?%]
mar(16)		 wcp probes no info available {45} 3 cases
16-
U-
19		 male/
prenatal		 CH n.a. 47,XY,+mar[100%] min(16)(:p11.1→q11.2:) cenM, subcenM increased nuchal translucency in early pregnancy; TOP {54} case 22
16-
U-
20
 male/
prenatal		 AF
chord blood		 de novo CB:
48,XY,+mar1,
+mar2[67%]/
47,XY,+mar1[22%]/
46,XY[11%]
AF: 2mar: 6-42%, 1mar: 28-48%		 mar1: dic(16)
mar2: min(16)		 M-FISH; all cep, 16q11.2 probe; CGH reason for amniocentesis neural tube defect; no follow up data available {50} case 3
16-
U-
21		 female/
prenatal		 AF de novo 47,XX,+mar[12]/
46,XX[4]		 min(16)(:p11.1→q11.1:) cenM, subcenM AMA, TOP {0} provided from USA
6-
U-
22		 male/
prenatal		 AF de novo 47,XY,+mar[18]/
46,XY[7]		 min(16)(:p11.1→q11.2:) cenM, subcenM AMA; patient lost during follow up {0} provided from Germany
16-
U-
23		 female/
prenatal		 AF n.a. 47,XX,+mar[6]/
46,XX[14]		 min(16)(:p11.1→q11.1:) cep probes, MLPA AMA {56} case 18
16-
U-
24		 n.a./
prenatal		 AF de novo 47,+mar[26%]/
46[74%]		 mar(16)(:p11.2→q11.2:)
including microdel/-dup critical region		 cep probes, aCGH; subcenM AMA, no sonographic signs {57}
16-
U-
25		 female/
prenatal		 AF n.a. 47,XX,+mar[7]/
46,XX[12]		 mar(16) cep probes, aCGH; subcenM n.a. {61} case F0548089
16-
U-
26		 female/
prenatal		 AF n.a. 47,XX,+mar[100%] mar(16) SKY AMA {61} case F0751841
16-
U-
27
n.a./
prenatal		 AF n.a. 47,XN,+mar[?%]/
46,XN[?%]		 min(16)(:p11.1→q12.1:) cenM, subcenM n.a. {0} provided from Turkey
16-
U-
28		 female/
prenatal		 fibroblasts n.a. 47,XX,+mar[14]/
46,XX[36]		 min(16)(:p11.1→q11.1:) cenM, subcenM spontanous abort after ICSI {0} provided from Germany
16-
U-
29 		see 16-Uu-2
16-
U-
30		 female/
prenatal		 AF de novo 47,XX,+mar[?%]/
46,XX[?%]		 mar(16)(q11.2q12.1)
45,279,306-45,618,257		 aCGH twin pregnancy - sonography normal {0} provided from Switzerland
16-
U-
31		 male/
prenatal		 AF n.a. 47,XY,+mar[6]/
46,XY[11]		 r(16)(::p12.2→q11.2:) ceps, subcenM AMA, no sonographic signs, TOP {0} provided from Germany
16-
U-
32 to 33		 n.a./
postnatal		 PBL n.a. 47,XN,+mar[?%] r(16) FISH n.a. {64} 2 cases
16-
U-
34		 male/
prenatal		 AF de novo 47,XY,+mar[8]/
46,XY[22] 		min(16)(:p11.2→q11.2:) cenM, subcenM; UPD-test AMA, no info available {0} provided from Germany
6-
U-
35		 female/
prenatal		 AF de novo 47,XX,+mar[100%] min(16)(:p12.1→q11.2:) cenM, subcenM TOP {0} provided from Israel
16-
U-
36		 n.a./
prenatal		 AF de novo 47,XN,+mar[50%]/
46,XN[50%]		 r(16)
(::p11.2→q11.2::) 		cenM, subcenM increased nuchal transluciency, TOP {0} provided from Portugal
16-
U-
37		 male/
prenatal		 AF n.a. 47,XY,+mar[21]/
46,XY[11]		 min(16)(:p11.1→q12.1:) cenM, subcenM AMA; baby born, no further info {0} provided from Serbia
16-
U-
38		 female/
8y		 PBL n.a. 47,XX,+mar[5]/
46,XX[45]		 mar(16) M-FISH short stature, elevated TSH level {69} case 10
16-
U-
39		 female/
prenatal		 AF n.a. 47,XX,+mar[33]/
46,XX[30]		 r(16)(::p12.2→p11.2::) midi n.a. {0} provided from Germany
16-
U-
40		 male/
prenatal		 AF
PBL		 de novo AF:47,XY,+mar[10]/
46,XY[31]
PBL no sSMC at 1.5 years		 mar(16)(p11.1q22.1)
aCHG (hg19):
46,492,626-68,867,969		 aCGH
UPD test		 born at 25 wog with 585g. At 1½ y short stature, congenital hypothyroidism, hearing impairment hypospadias {70}
16-
U-
41
 male/
prenatal		 AF n.a. 47,XX,+mar[100%] min(16)(:p11.1→q11.1:) midi Charge syndrome
 {0} provided from Germany
16-
U-
42
 female/
childhood		 PBL de novo
 47,XX,+mar[100%] min(16)(:p11.2→q1?2:)
NGS: 29.64-29.78Mb (hg19?)
 NGS; qPCR
 obesity, short stature
 {72}
16-
U-
43
 female/
prenatal		 AF
 de novo
 47,XX,+mar[100%] min(16)(:p11.2→q1?2:)
aCGH: 32.02Mb (hg19)
 aCGH
 AMA
 {73} case 18
16-
U-
44
 female/
prenatal		 AF
 n.a.
 47,XX,+mar[26]/
46,XX[12]		 min(16)(:p?11→q1?1.2:)
 cenM, subcenM
 n.a.
 {0} provided from Portugal
16-
U-
45
 male/
prenatal		 AF
 n.a.
 47,XY,+mar[20-60%]/
46,XY[80-40%]		 min(16)(:p11.2→q11.?1:)
break in p [hg19]:
27.021975 Mb
 cep, SKY, aCGH,
sonography normal, TOP
 {79}

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
16-
Uc-
1 		-
 		-
 		-
 		-
 		-

 		-
 		-
 		-

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
16-
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
16-
Uu-
1 		male/
prenatal 		AF n.a. 47,inv(X)(p11.4p22.3)Y,+mar[18]/
46,inv(X)(p11.4p22.3)Y[7] 		min(16)(:p11.2→q11.1:) maternal UPD 16 cenM; subcenM; UPD-test AMA; spontaneous birth in week 39 of gestation; Apgar ?/10(10, weight 2960g; apart from posterior plagiocephaly no indication for malformations {26; 63; 77}
16-
Uu-
2 		male/
prenatal 		AF n.a. 47,XY,+mar[27]/
46,XY[5] 		r(16)(::p11.1→q11.2::)
maternal UPD 16 		cenM; subcenM; UPD-test Dandy Walker Cyst and brain malformations; TOP {63}