Clinical phenotype associated with terminal 2q37 deletion

Beth Conrad, Gordon Dewald, Eric Christensen, Michaelene Lopez, James Higgins, Mary Ella M Pierpont

Research output: Contribution to journalArticlepeer-review

53 Scopus citations

Abstract

Three children with deletions of the terminal portion of the long arm of chomosome 2 [del (2) (q37)] are described and their clinical findings compared to published cases of 2q terminal deletions. Common clinical findings include development delay, macrocephaly, frontal bossing, depressed nasal bridge and cardiac anomaly. Hypotonia and repetitive behavior are also seen during different times of development. The facial characteristics of children with 2q terminal deletions are not uniform, but development delay is a constant finding. Chromosomal analysis of such children using high resolution banding may uncover the diagnosis of a small chromosomal deletion.

Original languageEnglish (US)
Pages (from-to)134-139
Number of pages6
JournalClinical Genetics
Volume48
Issue number3
DOIs
StatePublished - Sep 1995

Keywords

  • chromosome 2 deletion
  • deletion 2q
  • developmental delay

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