Partial trisomy and partial monosomy resulting from a reciprocal segregating in a large family

Gopalrao V N Velagaleti, Judy C. Hawkins, Neli I. Panova, Lillian Lockhart

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

Partial trisomy 7p with partial monosomy 9p is a rare disorder with only 3 cases reported. Both these abnormalities i.e., partial trisomy 7p and partial monosomy 9p result in distinct clinical phenotypes. However, patients with combined 7p trisomy/9p monosomy present with a phenotype consistent with trisomy 7p. We present a fourth case of trisomy 7p/monosomy 9p with long term follow-up and document the medical complications associated with this disorder. Long term follow-up of patients with chromosome abnormalities provides a unique opportunity to document the medical history and complications associated with such abnormalities.

Original languageEnglish (US)
Pages (from-to)956-960
Number of pages5
JournalIndian Journal of Pediatrics
Volume75
Issue number9
DOIs
StatePublished - Sep 2008

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Keywords

  • Anterior fontanel
  • del(9p)
  • dup(7p)
  • Hypothyroidism
  • Multiple anomalies

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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