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Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation.

Abstract
We present clinical and cytogenetic data on a family with a t(4;13)(p16;q11) translocation present in four generations. The balanced translocation resulted in one individual with monosomy 4p and one individual with trisomy 4p, due to 3:1 segregation. The male patient with trisomy 4p was fertile and transmitted the extra chromosome to his daughter.
AuthorsS S Takeno, M Corbani, J A D Andrade, M de A C Smith, D Brunoni, M I Melaragno
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 129A Issue 2 Pg. 180-3 (Aug 30 2004) ISSN: 1552-4825 [Print] United States
PMID15316961 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright 2004 Wiley-Liss, Inc.
Topics
  • Abnormalities, Multiple (genetics)
  • Adult
  • Child, Preschool
  • Chromosome Banding
  • Chromosome Deletion
  • Chromosome Disorders (genetics)
  • Chromosome Segregation (genetics)
  • Chromosomes, Human, Pair 4 (genetics)
  • Female
  • Humans
  • Intellectual Disability (genetics)
  • Karyotyping
  • Male
  • Pedigree
  • Syndrome
  • Translocation, Genetic (genetics)
  • Trisomy (genetics)

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