PMID- 14659787
OWN - NLM
STAT- MEDLINE
DCOM- 20040629
LR  - 20191108
IS  - 0003-3995 (Print)
IS  - 0003-3995 (Linking)
VI  - 46
IP  - 4
DP  - 2003 Oct-Dec
TI  - "Cri-du-chat" syndrome in a patient born to a mother with a paracentric inversion 
      of chromosome 5q.
PG  - 483-6
AB  - We report the case of a female child presented at birth with hypotonia, growth 
      retardation and respiratory distress. Chromosome study from peripheral blood 
      showed a 46,XX,del(5)(p14pter) karyotype. Parental chromosome studies revealed 
      that the mother carried an apparently balanced paracentric inversion of long arms 
      of one chromosome 5, giving the karyotype 46,XX,inv(5)(q12q32), whereas paternal 
      karyotype was normal. The maternal abnormality was confirmed by fluorescence in 
      situ hybridization (FISH) and was not present in the daughter's metaphases. 
      Microsatellite analysis in the proposita and her parents permitted us to conclude 
      that the deleted chromosome 5 was paternal in origin, as usually described. 
      Therefore, as might have been expected, maternal paracentric inversion of 
      chromosome 5q and "cri-du-chat syndrome" presented by the daughter were not 
      related.
FAU - Bourthoumieu, Sylvie
AU  - Bourthoumieu S
AD  - Faculte de Medecine, Laboratoire d'Histologie et de Cytogenetique, 2, rue du Dr 
      Marcland, 87025 Limoges, France.
FAU - Esclaire, Francoise
AU  - Esclaire F
FAU - Terro, Faraj
AU  - Terro F
FAU - Baclet, Marie Claire
AU  - Baclet MC
FAU - Bedu, Antoine
AU  - Bedu A
FAU - Dufetelle, Brigitte
AU  - Dufetelle B
FAU - Gilbert, Brigitte
AU  - Gilbert B
FAU - Barthe, Dominique
AU  - Barthe D
FAU - Yardin, Catherine
AU  - Yardin C
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Netherlands
TA  - Ann Genet
JT  - Annales de genetique
JID - 0370562
SB  - IM
MH  - Adult
MH  - *Chromosome Inversion
MH  - *Chromosomes, Human, Pair 5
MH  - Cri-du-Chat Syndrome/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Male
MH  - Pedigree
EDAT- 2003/12/09 05:00
MHDA- 2004/06/30 05:00
CRDT- 2003/12/09 05:00
PHST- 2003/12/09 05:00 [pubmed]
PHST- 2004/06/30 05:00 [medline]
PHST- 2003/12/09 05:00 [entrez]
AID - S0003399503000327 [pii]
AID - 10.1016/j.anngen.2003.07.001 [doi]
PST - ppublish
SO  - Ann Genet. 2003 Oct-Dec;46(4):483-6. doi: 10.1016/j.anngen.2003.07.001.