PMID- 14610351
OWN - NLM
STAT- MEDLINE
DCOM- 20031125
LR  - 20171101
IS  - 1424-859X (Electronic)
IS  - 1424-8581 (Linking)
VI  - 101
IP  - 2
DP  - 2003
TI  - The donor chromosome breakpoint for a jumping translocation is associated with 
      large low-copy repeats in 21q21.3.
PG  - 118-23
AB  - Jumping translocations (JTs) are very rare chromosome aberrations, usually 
      identified in tumors. We report a constitutional JT between donor chromosome 
      21q21.3-->qter and recipients 13qter and 18qter, resulting in an approximately 
      15.5-Mb proximal deletion 21q in a girl with mild developmental delay and minor 
      dysmorphic features. Using fluorescence in situ hybridization (FISH) studies, we 
      identified an approximately 550-kb complex inter- and intra-chromosomal low-copy 
      repeat (LCR) adjacent to the 21q21.3 translocation breakpoint. On the recipient 
      chromosomes 13qter and 18qter, the telomeric sequences TTAGGG were retained. 
      Genotyping revealed that the deletion was of maternal origin. We propose that 
      genome architecture involving LCRs may be a major mechanism responsible for the 
      origin of jumping translocations.
CI  - Copyright 2003 S. Karger AG, Basel
FAU - Stankiewicz, P
AU  - Stankiewicz P
AD  - Molecular and Human Genetics, Baylor College of Medicine, Houston TX, USA.
FAU - Cheung, S W
AU  - Cheung SW
FAU - Shaw, C J
AU  - Shaw CJ
FAU - Saleki, R
AU  - Saleki R
FAU - Szigeti, K
AU  - Szigeti K
FAU - Lupski, J R
AU  - Lupski JR
LA  - eng
GR  - HD24064/HD/NICHD NIH HHS/United States
GR  - P01 HD39420/HD/NICHD NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Switzerland
TA  - Cytogenet Genome Res
JT  - Cytogenetic and genome research
JID - 101142708
SB  - IM
MH  - Child
MH  - *Chromosome Breakage
MH  - Chromosomes, Human, Pair 13
MH  - Chromosomes, Human, Pair 18
MH  - *Chromosomes, Human, Pair 21
MH  - Developmental Disabilities/diagnosis/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Repetitive Sequences, Nucleic Acid
MH  - *Translocation, Genetic
EDAT- 2003/11/12 05:00
MHDA- 2003/12/03 05:00
CRDT- 2003/11/12 05:00
PHST- 2003/06/11 00:00 [received]
PHST- 2003/07/15 00:00 [accepted]
PHST- 2003/11/12 05:00 [pubmed]
PHST- 2003/12/03 05:00 [medline]
PHST- 2003/11/12 05:00 [entrez]
AID - 74166 [pii]
AID - 10.1159/000074166 [doi]
PST - ppublish
SO  - Cytogenet Genome Res. 2003;101(2):118-23. doi: 10.1159/000074166.