Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect

Jennifer Takagishi, Katherine A Rauen, Timothy Drumheller, Boris Kousseff, Maxine Sutcliffe

Research output: Contribution to journalArticle

20 Scopus citations

Abstract

3p25 deletion syndrome is characterized by mental retardation, growth retardation, hypotonia, microcephaly, ptosis, and micrognathia. Of the 42 persons with this deletion syndrome cited in the literature, only 2 patients, a mother-daughter pair, have previously been reported without apparent clinical consequence. We present a second mother-daughter dyad with a terminal 3p25.3-3pter deletion, who present with only mild clinical effects. In addition to cytogenetic analysis, array CGH was performed to determine the breakpoints at the molecular level. Our data show that the 3p25 deletion syndrome may, therefore, reflect a much broader phenotypic spectrum than previously recognized.

Original languageEnglish (US)
Pages (from-to)1587-1593
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume140
Issue number14
DOIs
StatePublished - Jul 15 2006
Externally publishedYes

Keywords

  • Array CGH
  • Chromosome 3 deletions
  • Deletion 3p25 syndrome
  • Genotype-phenotype correlation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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