Disomy of distal Xq in males: Case report and overview

Antonio Novelli; Laura Bernardini; Damiano Carmelo Salpietro; Silvana Briuglia; Maria Valeria Merlino; Rita Mingarelli; Bruno Dallapiccola

doi:10.1002/ajmg.a.30088

Disomy of distal Xq in males: Case report and overview

Antonio Novelli, Laura Bernardini, Damiano Carmelo Salpietro, Silvana Briuglia, Maria Valeria Merlino, Rita Mingarelli, Bruno Dallapiccola

Research output: Contribution to journal › Article › peer-review

Abstract

A 46,XYq 8-year-old male was referred for microcephaly, growth, and mental retardation, hypotonia, genital hypoplasia, and dysmorphisms. FISH analysis showed that the rearranged Y chromosome originated from an unbalanced translocation of Xq27.3-qter onto the deleted Yq11.22. Analysis of reported patients with disomy of region distal to Xq26 suggests that this rare anomaly, associated with failure to dosage compensate X-linked genes that are normally inactivated, when present in two copies, is causing a quite distinct phenotype. This imbalance is the aberrant by product of the recombinogenic pairing of the distal pseudoautosomal Xq-Yq region at male meiosis.

Original language	English
Pages (from-to)	165-169
Number of pages	5
Journal	American Journal of Medical Genetics
Volume	128 A
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.a.30088
Publication status	Published - Jul 15 2004

Keywords

Chromosome
Disomy
Duplication
FISH
Xq28

ASJC Scopus subject areas

Genetics(clinical)

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title = "Disomy of distal Xq in males: Case report and overview",

abstract = "A 46,XYq 8-year-old male was referred for microcephaly, growth, and mental retardation, hypotonia, genital hypoplasia, and dysmorphisms. FISH analysis showed that the rearranged Y chromosome originated from an unbalanced translocation of Xq27.3-qter onto the deleted Yq11.22. Analysis of reported patients with disomy of region distal to Xq26 suggests that this rare anomaly, associated with failure to dosage compensate X-linked genes that are normally inactivated, when present in two copies, is causing a quite distinct phenotype. This imbalance is the aberrant by product of the recombinogenic pairing of the distal pseudoautosomal Xq-Yq region at male meiosis.",

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AU - Novelli, Antonio

AU - Bernardini, Laura

AU - Salpietro, Damiano Carmelo

AU - Briuglia, Silvana

AU - Merlino, Maria Valeria

AU - Mingarelli, Rita

AU - Dallapiccola, Bruno

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AB - A 46,XYq 8-year-old male was referred for microcephaly, growth, and mental retardation, hypotonia, genital hypoplasia, and dysmorphisms. FISH analysis showed that the rearranged Y chromosome originated from an unbalanced translocation of Xq27.3-qter onto the deleted Yq11.22. Analysis of reported patients with disomy of region distal to Xq26 suggests that this rare anomaly, associated with failure to dosage compensate X-linked genes that are normally inactivated, when present in two copies, is causing a quite distinct phenotype. This imbalance is the aberrant by product of the recombinogenic pairing of the distal pseudoautosomal Xq-Yq region at male meiosis.

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