ChromosOmics - Database

Icon by Leon Liehr                   

                                                  -  CHROMOSOME #5 -                                                 
UNCLEAR


Cases without clinical findings Similar imbalances – no sSMC
Cases with clinical findings Similar imbalances – no sSMC
  Cases with isochromosome 5p 
Cases without clear clinical correlation
 Cases with discontinous sSMC
Cases with complex sSMC
 Cases with UPD and sSMC
Cases (sSMC) with neocentromeres Similar imbalances -no sSMC
Tumor DISCLAIMER

References

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(5)mat UPD(5)pat UPD(5)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
05-
U-
1
n.a./
n.a.		 n.a. n.a. 47,+mar min(5) SKY n.a. {3} case 12
05-
U-
2		 see mult 2-19
05-
U-
3		 n.a./
prenatal		 AF de novo 47,+mar[18]/
46[7]		 r(5) cep probes
wcp 5		 Amniocentesis due to AMA, TOP - no follow up {14} case 18
05-
U-
4		 female/
31y		 PBL n.a. 47,XX,+mar[?%] min(5)(:p12→q11.1:) cenM;
subcenM		 n.a. {0} provided from Russia
05-
U-
5		 female/
prenatal		 AF
chord blood		 de novo AF: 47,XX,+mar[20]/46,XX[20]
chord blood: 48,XX,+mar[2]/
47,XX,+mar[20]/46,XX[10]		 min(5)(:p12→q11.1~11.2:) cenM;
subcenM		 see below {0} provided from Serbia
no ultrasound abnormality in week 22; TOP; autopsy findings at 8 lunar months: length 43cm, weight 1940g - no internal or external abnormalities
05-
U-
6		 male/
prenatal		 AF n.a. AF: 47,XY,+mar[100%] min(5)(:p11→q11.2:)
cenM; subcenM;
UPD-test		 borderline ventriculomegaly on both sides, no further information available {0} provided from Germany
05-
U-
7		 -
 -
 -
 -
 -
 -
 -
 -
05-
U-
8		 female/
prenatal		 AF n.a. 47,XX,inv(19)(p11~12q12),+mar[44]/46,XX,inv(19)(p11~12q12)[12] min(5)(:p11→q11.1:) cenM; subcenM AMA, twin pregnancy after ICSI {0} provided from Germany
05-
U-
9		 male/
prenatal		 AF n.a. 47,XY,+mar[4]/46,XY[11] min(5)(:p11→q11.1:) cenM; subcenM AMA, no sonographic signs {0} provided
from Germany
05-
U-
10		 male/
prenatal		 AF/ PBL de novo AF: 47,XY,+mar[40%]/46,XY[60%]
PBL: 47,XY,+mar[80%]/46,XY[20%]		 mar(5) wcp 5;cep 1/5/19 see below {58}
heart defect, forman avle apertum, astmatic attacks, failure to thrive, inguinal and umbilcal hernia, polydactyly, short neck, dysmorphic signs, ventzriculomegaly, axial hypotonia
05-
U-
11		 see 05-Ud-1
05-
U-
12		 female/
prenatal		 Ch de novo
 47,XX,+mar[50%]/
46,XX[50%1]		 min(5)(:p12→q11.1:) or min(5)(:p12→q11.1:
:q11.1→p12:)		 cenM; subcenM no clinical info available
 {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
05-
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
05-
Ud-
1 		male/
prenatal 		AF n.a. 47,XY,+mar[100%] mar(5)(pter→q11.2:
:p15.?2→pter)		 cenM;
subcenM 		n.a. {0} provided from Germany

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
05-
Uu-
1 		-
 		-
 		-
 		-
 		-
 		-
 		-
 		-