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De novo t(4;5)(q3100;q2200) with del(5)(q1500q2200). Tentative delineation of a 5q monosomy syndrome and assignment of the critical segment.

Authors
  • Rivera, H
  • Rolón, A
  • Sánchez-Corona, J
  • Cantú, J M
Type
Published Article
Journal
Clinical genetics
Publication Date
Jan 01, 1985
Volume
27
Issue
1
Pages
105–109
Identifiers
PMID: 3978836
Source
Medline
License
Unknown

Abstract

An 8-month-old boy with multiple malformations and psychomotor retardation was found to have a de novo t(4;5)(q1300;q2200) with del(5)(q1500q2200). The phenotypical comparison with 10 similar monosomic cases from the literature led us to tentatively delineate a 5q monosomy syndrome and to postulate the band 5q15 as the correspondent critical segment.

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