3q29 interstitial microdeletion syndrome: An inherited case associated with cardiac defect and normal cognition

Feng Li, Emily C. Lisi, Elizabeth S. Wohler, Ada Hamosh, Denise Batista

Research output: Contribution to journalArticle

Abstract

An inherited, interstitial subtelomere deletion of approximately 1.3-1.4 Mb at 3q29 was identified in a patient and his father utilizing BAC array comparative genomic hybridization (a-CGH). The imbalance was located within the common 3q29 microdeletion syndrome region and shared the distal breakpoint with prior published cases. However, our patient was developmentally normal at 6 months of age and his father is a functional adult, who had mild developmental delay in childhood. They presented with congenital cardiac defects including patent ductus arteriosus. In addition, the patient had subvalvular aortic stenosis and his father had pulmonic stenosis. These defects were not present in most of the previously reported 3q29 microdeletion cases. This case expands the phenotypic findings associated with 3q29 microdeletion syndrome, suggesting an association with cardiac defect. It also raises the possibility of normal cognition in adulthood.

Original languageEnglish (US)
Pages (from-to)349-352
Number of pages4
JournalEuropean Journal of Medical Genetics
Volume52
Issue number5
DOIs
StatePublished - Sep 2009

Fingerprint

Fathers
Cognition
Subvalvular Aortic Stenosis
Pulmonary Valve Stenosis
Patent Ductus Arteriosus
Comparative Genomic Hybridization
Chromosome 3q29 Deletion Syndrome

Keywords

  • 3q29
  • Cardiac defect
  • Microarray
  • Microdeletion
  • PDA

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

3q29 interstitial microdeletion syndrome : An inherited case associated with cardiac defect and normal cognition. / Li, Feng; Lisi, Emily C.; Wohler, Elizabeth S.; Hamosh, Ada; Batista, Denise.

In: European Journal of Medical Genetics, Vol. 52, No. 5, 09.2009, p. 349-352.

Research output: Contribution to journalArticle

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