Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus.

Abstract

We report on an apparently normal 5-month-old boy with a X;Y complex rearrangement identified first on prenatal diagnosis and found on array-CGH to have a 7.6 Mb duplication of Xp22.3 chromosome and a deletion of Yq chromosome, distal to the AZFa locus. Karyotype analysis on amniotic fluid cell cultures revealed a de novo homogenous chromosome marker that we interpreted as an isochromosome Yp. FISH analysis using SRY probe revealed only one signal on the derivative Y chromosome. The final karyotype was interpreted as 46,X,der(Y)t(X;Y)(p22.31;q11.22). Translocation Xp22;Yq11 in male are very rare event and only 4 cases have been published, all showing mental retardation and malformations. Herein we discussed some possible explanation for this apparent phenotypic variability.

• Authors: Chiara Palka, Melissa Alfonsi, Elisena Morizio, Alessandra Soranno, Daniela La Rovere, Barbara Matarrelli, Anna Lucia Rullo, Roberto Zori, Francesco Chiarelli, Giuseppe Calabrese
• Journal: European journal of medical genetics (Eur J Med Genet) 2011 May-Jun Vol. 54 Issue 3 Pg. 333-6 ISSN: 1878-0849 [Electronic] Netherlands
• PMID: 21354345 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Topics

• Adult
• Chromosome Banding
• Chromosomes, Human, X (genetics)
• Chromosomes, Human, Y (genetics)
• Comparative Genomic Hybridization (methods)
• Female
• Fetal Diseases (diagnosis, genetics)
• Humans
• In Situ Hybridization, Fluorescence
• Infant
• Karyotyping
• Male
• Pregnancy
• Pregnancy Outcome
• Prenatal Diagnosis (methods)
• Translocation, Genetic