Caractérisation de deux anneaux dérivés du chromosome 22 découverts en période prénatale à l'aide de techniques de cytogénétique et de génétique moléculaire
|Abstract:||Objective: Cytogenetic and molecular genetic characterization of two constitutional ring chromosomes 22 identified during prenatal diagnosis. Materials and Methods: A 39 year-old woman, G4P2A1, had amniocentesis at 163/7 weeks of gestation. Conventional and molecular cytogenetic studies with microsatellite analysis of the fetal and parental cells were performed. Results: The fetus had two ring chromosomes derived from chromosome 22 with three breakpoints: one located at the centromere, another, at the p11.2 subband and the third, at the q13.31 subband. The distal part of the two derivative chromosomes was lost. Then, two rings resulted: a small and a large one. The small ring was formed by joining the end of p11.2 subband to a portion of the centromere; the other by joining the second part of the centromere to the end of q13.31 subband. The male fetus presents the following karyotype: 47, XY, r(22)(p11.1p11.2), +r(22)(q11.1q13.31). The proband’s chromosome aberration occurred de novo from the maternal chromosome. At the autopsy, the fetus showed minor clinical features. The number of fetal nucleated blood cells detected in peripheral maternal circulation, showing positive signals for Y chromosome and DiGeorge/VCF.TUPLE1 probes and absence of ARSA control signal, was 10 cells per mL. Conclusion: Despite the haploinsufficiency of many active genes, the fetus showed minor congenital malformations.|
|Document Type:||Mémoire de maîtrise|
|Open Access Date:||12 April 2018|
|Collection:||Thèses et mémoires|
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