Child with multiple congenital anomalies and mosaicism 46, XX/46,XX, del (14)(q32.3)

B. A. Miller, P. Jayakar, H. Capo

Research output: Contribution to journalArticle

11 Scopus citations

Abstract

We report on a female infant with multiple congenital anomalies and severe developmental delay in association with a rare, terminal deletion of chromosome 14 [karyotype: mosaic. 46,XX/46,XX del (14)(q32.3) = 36%:64%].

Original languageEnglish (US)
Pages (from-to)635-637
Number of pages3
JournalAmerican journal of medical genetics
Volume44
Issue number5
DOIs
StatePublished - Nov 23 1992
Externally publishedYes

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Keywords

  • chromosomal aberration
  • chromosome deletion
  • human chromosome 14
  • mosaic
  • multiple congenital anomalies

ASJC Scopus subject areas

  • Genetics(clinical)

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