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 journalArticlepeer-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 languageEnglish
Pages (from-to)165-169
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume128 A
Issue number2
DOIs
Publication statusPublished - Jul 15 2004

Keywords

  • Chromosome
  • Disomy
  • Duplication
  • FISH
  • Xq28

ASJC Scopus subject areas

  • Genetics(clinical)

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