ChromosOmics - Database

Icon by Leon Liehr                   

                                                  -  CHROMOSOME #10 -                                                 
NORMAL
 
 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(10)mat UPD(10)pat UPD(10)mat or pat

Cases without clinical findings (O)


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
10-
O-
p12.1/
1-1		 female/
prenatal		 AF de novo 47,XX,+mar[7]/
46,XX[8]		 min(10)(:p12.1→q11.22:)
FISH-data: RP11-232C13 (36.23 MB) and RP11-178A10 (42.32) on sSMC		 cenM,
subcenM		 see below {38} case 1
{23} case 60
abnormal second trimester screen (AFP3) with DS risk of 1/31; family history unremarkable; US normal in week 19; AFP normal; delivery by cesarean section for fetal distress at 40 weekgestation. Birth weight was 8 lbs 1 oz length 20 1/2 inches. normal newborn. normal at 1 year of age, At 1 year, ready to walk (currently walking holding on to furniture), drinks from a cup, has a neat pincer, saya mama, dada. Her weight is 20 lbs 8 oz and she is 31 inches long.
10-
O-
p11.23~
11.22/
1-1		 female/
prenatal		 AF de novo 47,XX,+mar[16]/
46,XX[8]		 min(10)(:p11.23→q11.1~11.21:)*
FISH-data: CTD-2130I7 (30.8 MB) and RP11-79K19 (33.5 MB) on sSMC;
array-data size: 36.2MB-42.9Mb		 SKY, BACs; oligo aCGH amniocentesis due to pregnancy after ovarian hyper stimulation; normal child born {39}
10-
O-
p11.21~
11.22/
1-1		 female/
prenatal		 AF de novo 47,XX,+mar[100%] r(10)(::p11.21~11.22→
q11.21~q11.22::)
FISH-data: RP11-232C13 (36.23 MB) and RP11-178A10 (42.32) on sSMC		 cenM;
subcenM; UPD-test		 AMA, ultrasound normal, normal child born {38} case 2
10-
O-
p11.21/
1-1		 female/
prenatal		 AF de novo 47,XX,+mar[80]/
46,XX[20]		 min(10)(:p11.21→q11.22:) cenM;
subcenM		 AMA, ultrasound normal, normal child born in week 33 by section; birth weight 2100g {38} case 3
***
10-
O-
p11.21/
2-1
 		male/
prenatal		 AF de novo 47,XY,+mar[15]/
46,XY[35]		 r(10)(::p11.21→q11.21::)
34.40- 44.45 MB {38}
34.75-43.82 MB
 (test J)
34,57-44,84 Mb
(test C)		 centromeric probes;
subcenM;
aCGH		 marker detected prenatally, normal child born, at age of 10y normal {0}
{38} case 4
10-
O-
p11.21/
3-1		 female/
prenatal		 AF de novo 47,XX,+mar[25]/
46,XX[5]		 min(10)(:p11.21→q11.21:) cenM;
subcenM		 normal child born {42} case 2; {47} case 2
10-
O-
p11.21/
4-1		 female/
adult		 PBL mat 47,XX,+mar[49]/
46,XX[51]		 mar(10)(:p11.21→q11.1:)
size 2.5 Mb		 aCGH normal woman, infertile, mother and sister with sSMC normal {49}
10-
O-
p11.21/
4-2		 female/
prenatal		 AF n.a. 47,XX,+mar[100] min(10)(:p11.21→q11.1:)
35,36-42,45 Mb (hg19)		 aCGH normal child birn and normal at 3y {50}
***
10-
O-
p11.21/
5-1		 female/
prenatal		 AF de novo 47,XX,+mar[18]/
46,XX [5]		 r(10)(:p11.21→q11.23:)
37,588375-48,893792 Mb (hg19)

 midi, FISH, aCGH normal child birn and normal
{56}
10-
O-
p11.1/
1-1		 female/
prenatal		 AF de novo 47,XX,+mar[50%]/
46,XX[50%]		 min(10) (:p11.1→q11.21~q11.22:)
FISH-data: RP11-178A10 (42.32) on sSMC		 cenM,
subcenM		 normal in ultrasound; twin pregnancy, karyotype of brother normal; birth weight of female with marker 2280g and of male 2350g; both at 8w normal {38} case 5
10-
O-
p11.1/
2-1		 female/
prenatal		 AF de novo 47,XX,+mar[100%] min(10)(:p11.1→q11.1:) or min(10)(:p11.1→q11.1:
:p11.1→q11.1:)		 centromeric probes,
subcenM; UPD-test		 AMA, twin pregnancy, karyotype of brother normal; normal babies born; female with mar normal at 2y {38} case 6

O-Cases with similar imbalances NOT caused by sSMC (O-IMB)

case no.
 		gender/
age at diagnosis
 		studied
material
 		de novo/
Inherited
 		GTG-banding and final FISH result test
methods
 		clinical symptoms
 		Reference
10-
O-
IMB-
p11.1/
1-1 		male/
prenatal 		AF paternal 46,XY,psu dic(10)(pter→q11.22::p11.1→qter) subcenM amniocentesis due to psychological reasons {38} case 7
***
10-
O-
IMB-
p11.1/
2-1


 		female/
prenatal 		AF de novo 46,XX
in NIPT and CMA: 10q11.21q11.23 duplicated seq[hg19]dup(10)q11.21q11.23)
chr10:g.46,100,000_52,120,000dup
most likely
psu dic(10)(pter→q11.23::p11.1→qter) 		NIPT
CMA
 		tested after NIPT in more detail. child born and normal at 2 years {0} provided from China

O-cases with unclear/insufficient characterization of the sSMC (CO)

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
10-
CO-
1
female/
prenatal 		AF de novo 47,XX,+mar[?%]/
46,XX[?%] 		mar(10) SKY, cep 10 see below {37} case 12
maternal serum Down syndrome screening test gave high risk value; child born and normal at 2 years
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