title: Lack of submicroscopic rearrangements involving telomeres in reproductive failures.
abstract: BACKGROUND
  It has been recognized that chromosomal abnormalities are one of the most important causes of the high mortality rate in human concepti. Among these abnormalities, the unbalanced transmission of a parental chromosomal rearrangement is frequently observed, and couples with a history of pregnancy losses are therefore referred for genetic counselling and to establish their karyotype. Unbalanced chromosomal rearrangements involving telomeres are emerging as an important cause of mental retardation and/or congenital malformations in humans. As suggested by several authors, they could also be responsible for recurrent miscarriages. The aim of this study was to screen cryptic chromosome abnormalities in couples referred to our laboratory for recurrent unexplained miscarriages.
  
  
  RESULTS
  Karyotyping was performed in 57 couples (114 patients). A detectable chromosomal abnormality was diagnosed in seven cases, thus limiting the analysis of telomeres to only 100 patients. Two different protocols were used according to the number of metaphases on slides. No telomeric chromosome abnormality was detected in our study.
  
  
  CONCLUSIONS
  The use of FISH telomeric probes is not of clinical interest in the systematic screening of couples with multiple miscarriages and should be performed only in those with a familial history of mental retardation and congenital malformations.
authors: Service d'Histologie Embryologie Cytogénétique BDR, Hôpital Jean Verdier, avenue du 14 Juillet, 93140 Bondy, France. brigitte.benzacken@jvr.ap-hop-paris.fr
authors: B
authors: B
authors: Benzacken
authors: L
authors: L
authors: Carbillon
authors: C
authors: C
authors: Dupont
authors: J P
authors: JP
authors: Siffroi
authors: F
authors: F
authors: Monier-Gavelle
authors: M
authors: M
authors: Bucourt
authors: M
authors: M
authors: Uzan
authors: J P
authors: JP
authors: Wolf
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics*; D002869:Chromosome Aberrations; D005260:Female; D015321:Gene Rearrangement; D005820:Genetic Testing; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011446:Prospective Studies; D016615:Telomere / Q000235:genetics*