Mosaic monosomy 14: clinical features and recognizable facies

V. McConnell, R. Derham, D. McManus, Patrick Morrison

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)

Abstract

A 1-year-old child with clinical features of monosomy 14 is reported. She has dysmorphic facial features including ocular colobomata, dolichocephaly and microcephaly, retinal pigmentation, severe seizures, fair curly hair and tapering fingers. There was severe mental retardation. This is the first reported case of severe mosaic monosomy 14, with up to 30% mosaicism. A recognizable facial gestalt is present in children with 14q deletions or partial monosomy 14, as well as susceptibility to infection, feeding difficulties, seizures and retinal pigmentation. (C) 2004 Lippincott Williams Wilkins.
Original languageEnglish
Pages (from-to)155-160
Number of pages6
JournalCLINICAL DYSMORPHOLOGY
Volume13
Issue number3
DOIs
Publication statusPublished - Jul 2004

ASJC Scopus subject areas

  • Anatomy
  • Genetics(clinical)
  • Pediatrics, Perinatology, and Child Health

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