Report of a mother and daughter with the 12q14 microdeletion syndrome

Audrey L. Bibb, Jill A. Rosenfeld, David Weaver

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

The 12q14 microdeletion syndrome is characterized by microcephaly, short stature, osteopoikilosis, weight deficiency, and learning disabilities. We report on a mother and daughter with a 12q14 microdeletion. To our knowledge these are the first reported familial cases with the syndrome. We also discuss the genes in the deleted area that may be contributing to the phenotype.

Original languageEnglish
Pages (from-to)417-422
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number2
DOIs
StatePublished - Feb 2012

Fingerprint

Osteopoikilosis
Microcephaly
Learning Disorders
Phenotype
Weights and Measures
Genes

Keywords

  • 12q14 microdeletion
  • Birth defects
  • Chromosomal abnormalities
  • Comparative genomic hybridization
  • Microarray
  • Microcephaly
  • Short stature

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Report of a mother and daughter with the 12q14 microdeletion syndrome. / Bibb, Audrey L.; Rosenfeld, Jill A.; Weaver, David.

In: American Journal of Medical Genetics, Part A, Vol. 158 A, No. 2, 02.2012, p. 417-422.

Research output: Contribution to journalArticle

Bibb, Audrey L. ; Rosenfeld, Jill A. ; Weaver, David. / Report of a mother and daughter with the 12q14 microdeletion syndrome. In: American Journal of Medical Genetics, Part A. 2012 ; Vol. 158 A, No. 2. pp. 417-422.
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