ChromosOmics - Database

Icon by Leon Liehr                   

                                                  -  acro-CHROMOSOME -                                                 
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!
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
acro-
C-
1 to 5 		various/
prenatal 		AF familial or de novo 47,+mar n.a. n.a. none or n.a. {2}
acro-
C-
6 to 15 		various/
prenatal or postnatal 		AF or PBL familial or de novo 47,+mar n.a. n.a. none or n.a. {3}
acro-
C-
16 to 79 		various/
prenatal or postnatal 		AF or PBL familial or de novo 47,+mar n.a. n.a. none or n.a. review of literature before 1983 {3}
acro-
C-
80		 various/
prenatal or postnatal 		PBL familial 47,+mar (#15 was excluded) n.a. n.a. none or n.a. {4}
acro-
C-
81 to 111 		various/
prenatal or postnatal 		AF or PBL familial or de novo 47,+mar n.a. n.a. none or n.a. {5}
acro-
C-
111 to 118 		various/
prenatal or postnatal 		AF or PBL familial or de novo 47,+mar n.a. n.a. none or n.a. {6}
acro-
C-
119 		female/
n.a. 		PBL familial 47,XX,+mar n.a. n.a. none or n.a. {6}

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
acro-
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
acro-
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
acro-
Uu-
1 		-
 		-
 		-
 		-
 		-
 		-
 		-
 		-