Brief clinical report: Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation

Masaharu Akiyama, Hiroshi Kawame, Hirofumi Ohashi, Takaya Tohma, Hidemi Ohta, Akihiro Shishikura, Ichiro Miyata, Nobuo Usui, Yoshikatsu Eto

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

A nine-month-old boy, with functional disomy for Xq26-qter and multiple congenital abnormalities, is reported. The boy had severe pre- and postnatal growth retardation, profound developmental delay, hypotonia, microcephaly, agenesis of the corpus callosum, dysmorphic facial features, cryptorchidism, and left multidysplastic kidney. He developed feeding difficulties and infantile spasms. G-banding analysis of his chromosomes showed additional material on the short arm of chromosome 21. His parents refused to submit to chromosome analysis. Analysis with chromosome microdissection followed by reverse and forward chromosome painting indicated his karyotype as 46,XY,der(21)t(X;21)(q26;p11.2). This is the first description of pure functional disomy for Xq26-qter due to an unbalanced X-autosome translocation.

Original languageEnglish
Pages (from-to)111-114
Number of pages4
JournalAmerican journal of medical genetics
Volume99
Issue number2
DOIs
Publication statusPublished - 2001 Mar 1

Keywords

  • Agenesis of the corpus callosum
  • Chromosome microdissection and painting
  • Infantile spasms
  • MCA/MR
  • Multidysplastic kidney
  • Pure functional Xq disomy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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