PMID- 9599647
OWN - NLM
STAT- MEDLINE
DCOM- 19980625
LR  - 20111117
IS  - 0003-3995 (Print)
IS  - 0003-3995 (Linking)
VI  - 41
IP  - 1
DP  - 1998
TI  - Unusual de novo t(13;15)(q12.1;p13) translocation leading to complex mosaicism 
      including jumping translocation.
PG  - 22-6
AB  - We report on a patient with neurosensory deafness, cataract and moderate mental 
      retardation showing a constitutional mosaicism with the predominant cell line 
      consisting of a 45,XY,-13,-15,+t(13;15) translocation of the Robertsonian type. 
      By means of fluorescence in situ hybridization (FISH) using a panel of 
      acrocentric pericentromeric probes and various banding techniques, the 
      breakpoints in the translocation were determined at 13q12.1 and 15p13 
      respectively. Five other cell lines were present, at low percentage, one of them 
      showing a t(13;15) tandem translocation. Interstitial telomeric sequences could 
      be detected at the translocation fusion sites in both the Robertsonian and tandem 
      translocations. The mosaicism appears therefore to be a consequence of 
      chromosomal instability involving the t(13;15) fusion region of the predominant 
      cell line, and related to the presence of interstitial telomeric sequences. The 
      present observation suggests that in the pericentromeric 13q12 region, a gene 
      involved in neurosensory deafness may be located.
FAU - Petit, P
AU  - Petit P
AD  - Center for Human Genetics, University Hospital Leuven, Belgium.
FAU - Devriendt, K
AU  - Devriendt K
FAU - Vermeesch, J R
AU  - Vermeesch JR
FAU - De Cock, P
AU  - De Cock P
FAU - Fryns, J P
AU  - Fryns JP
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Netherlands
TA  - Ann Genet
JT  - Annales de genetique
JID - 0370562
SB  - IM
MH  - Cataract/congenital/*genetics
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 13/*genetics
MH  - Deafness/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Intellectual Disability/*genetics
MH  - Male
MH  - Mosaicism/*genetics
MH  - Telomere/ultrastructure
MH  - Translocation, Genetic/*genetics
EDAT- 1998/05/26 00:00
MHDA- 1998/05/26 00:01
CRDT- 1998/05/26 00:00
PHST- 1998/05/26 00:00 [pubmed]
PHST- 1998/05/26 00:01 [medline]
PHST- 1998/05/26 00:00 [entrez]
PST - ppublish
SO  - Ann Genet. 1998;41(1):22-6.