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Rigshospitalet - a part of Copenhagen University Hospital
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Interstitial deletion in the "critical region" of the long arm of the X chromosome in a mentally retarded boy and his normal mother

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  • A Tabor
  • O Andersen
  • C Lundsteen
  • E Niebuhr
  • H Sardemann
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A family in which an intestitial deletion of the X chromosome, del(X)(q13q21.3), is segregating was ascertained through a boy with cleft lip and palate, agenesis of the corpus callosum, and severe mental retardation. The possible causal relationship to his chromosome abnormality is discussed. Although the deletion occurred within the critical region, the mother showed no signs of gonadal dysgenesis. A phenotypically normal daughter was, as her mother, monosomic for this region of the X, and both showed random inactivation of the X chromosome.

Original languageEnglish
JournalHuman Genetics
Volume64
Issue number2
Pages (from-to)196-9
Number of pages4
ISSN0340-6717
Publication statusPublished - 1983

    Research areas

  • Abnormalities, Multiple, Adult, Child, Preschool, Chromosome Deletion, Female, Humans, Intellectual Disability, Karyotyping, Male, Sex Chromosome Aberrations, X Chromosome, Case Reports, Journal Article, Research Support, Non-U.S. Gov't

ID: 53710862