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Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases

Archive ouverte | Mary, Laura | CCSD

International audience. The 22q11 region is prone to generating recurring Copy Number Variations (CNVs) as a result of the large numbers of Low Copy Repeats (LCRs). Typical duplications encompass the LCR-A-to-D regi...

Multicolor-FISH Characterization of a Prenatal Mosaicism for a Chromosomal Rearrangement Undetected by Molecular Cytogenetics

Archive ouverte | Mary, Laura | CCSD

International audience. Fetal mosaicism for chromosomal rearrangements remains a challenge to diagnose, even in the era of whole-genome sequencing. We present here a case of fetal mosaicism for a chromosomal rearran...

Optimizing care for MRKH patients: From malformation screening to uterus transplantation eligibility

Archive ouverte | Cospain, A. | CCSD

International audience. Introduction: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with utero-vaginal aplasia is the most severe form of the Müllerian duct anomalies and can be associated with extra-genital abnorm...

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