ChromosOmics - Database

Icon by Leon Liehr                   

                                                  -  CHROMOSOME #13 -                                                 
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(13)mat UPD(13)pat UPD(13)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
13-
O-
q10/
1-1 		female/
postnatal		 PBL n.a. 46,XX,t(13;13)(q10) midi infertile {0} provided by Dr. Weimer, Kiel, Germany
***
13-
O-
q11.2/
1-1
 		female/
prenatal
AF		 de novo 47,XX,+mar[100%]
in PBL sSMC only in 8/30 lymphocytes		 min(13)(pter→q12.11:)
FISH-data: present at least up to 19.32 MB		 cenM; subcenM AMA; normal child at 10 months of age {0} provided by Dr. Sagi, Jerusalem, Israel
13-
O-
q12.1?1/
1-1		 female/
prenatal		 AF n.a. 47,XX,+mar[7]/
46,XX[3]		 r(13)(::p11.2→q12.1?1::) cenM; subcenM AMA; normal child born {0} provided by Dr. Lemmens, Aachen
13-
O-
q12.11/
2-1		 male/
prenatal		 AF n.a. 47,XY,+mar[73%]/
46,XY[27%]		 min(13)(pter→q12.11:) acrocenM; subcenM AMA; normal child born {0} provided by Dr. Schulze, Hannover, Germany
13-
O-
q12.2/
1-1		 female/
prenatal		 AF/ PBL de novo 47,XX,der(13),+mar[100%] 47,XX,dic(13)(pter→q12.2:
:p11.2→qter),
+min(13)(pter→q12.2:
:p1?2→pter)		 cep probes, subcenM Aberrant first trimester screening, normal child born and normal at 1 y {0} provided by Dr. Prager and Junge, Dresden, Germany
13-
O-
q12.1?3/
1-1 		see 13-Uc-1
-
 		-
 		-
 		-
 		-
 		-
 		-
 		-
 		-

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
13-
O-
IMB-
q/
1-1 		-
 		-
 		-
 		-
 		-
 		-
 		-

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
13-
CO-
1 		-
 		-
 		-
 		-
 		-
 		-
 		-
 		-