PMID- 17103439
OWN - NLM
STAT- MEDLINE
DCOM- 20070125
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 140
IP  - 24
DP  - 2006 Dec 15
TI  - A new genomic mechanism leading to cri-du-chat syndrome.
PG  - 2714-20
AB  - Using standard banding techniques, a within-arm intrachromosomal insertion can be 
      mistakenly interpreted as a paracentric inversion. The need to correctly 
      distinguish between these two types of chromosome rearrangements is emphasized by 
      their different reproductive risks. For carriers of an intrachromosomal 
      insertion, the empiric risk of having a liveborn child with a recombinant 
      chromosome leading to a genetic imbalance is at least 15%, whereas the risk for a 
      carrier of a paracentric inversion having a liveborn child with a recombinant 
      chromosome leading to a genetic imbalance is thought to be practically 
      negligible. We report a unique observation in which a paracentric inversion in 
      the short arm of chromosome 5, 46,XX,inv(5)(p13.3p15.3), was identified in a 
      women who had a daughter with an apparently terminal deletion in the distal short 
      arm of chromosome 5, 46,XX,del(5)(p14.3), and the clinical diagnosis of 
      cri-du-chat syndrome. We further characterized the rearrangement, and 
      fluorescence in situ hybridization (FISH) and microsatellite analyses confirmed 
      the paracentric inversion in the mother and showed the deletion in the daughter 
      was maternal in origin. Therefore, this represents a case in which a confirmed 
      paracentric inversion likely resulted in a viable terminal deletion. We propose a 
      mechanism involving dicentric chromosome formation with subsequent breakage and 
      telomere healing during meiosis. This illustrates a new genomic mechanism of 
      chromosome rearrangement leading to cri-du-chat syndrome and should provide 
      significant information for the medical management of patients with other 
      terminal deletion syndromes.
CI  - (c) 2006 Wiley-Liss, Inc.
FAU - South, Sarah T
AU  - South ST
AD  - Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt 
      Lake City, Utah, USA. sarah.south@hsc.utah.edu
FAU - Swensen, Jeffrey J
AU  - Swensen JJ
FAU - Maxwell, Teresa
AU  - Maxwell T
FAU - Rope, Alan
AU  - Rope A
FAU - Brothman, Arthur R
AU  - Brothman AR
FAU - Chen, Zhong
AU  - Chen Z
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (DNA Primers)
SB  - IM
MH  - Adult
MH  - Base Sequence
MH  - Chromosome Banding
MH  - *Chromosome Deletion
MH  - *Chromosome Inversion
MH  - Chromosomes, Human, Pair 5/*genetics
MH  - Cri-du-Chat Syndrome/*genetics
MH  - DNA Primers/genetics
MH  - Female
MH  - Genotype
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Male
MH  - Microsatellite Repeats
MH  - Models, Genetic
EDAT- 2006/11/15 09:00
MHDA- 2007/01/26 09:00
CRDT- 2006/11/15 09:00
PHST- 2006/11/15 09:00 [pubmed]
PHST- 2007/01/26 09:00 [medline]
PHST- 2006/11/15 09:00 [entrez]
AID - 10.1002/ajmg.a.31496 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2006 Dec 15;140(24):2714-20. doi: 10.1002/ajmg.a.31496.