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Am J Med Genet A. 2003 Oct 1;122A(2):164-7.

Second reported patient with del(1)(p32.1p32.3) and similar clinical features suggesting a recognizable chromosomal syndrome.

Author information

1
Department of Pediatrics, Division of Developmental Pediatrics, Saint Louis University, St. Louis, Missouri, USA. SZinner@u.washington.edu

Abstract

Interstitial deletion of the short arm of chromosome 1 is rare. Eleven different breakpoints have been described in 12 children. We report a patient with del(1)(p32.1p32.3). Only one of the previously reported patients had an apparent identical deletion to that of the present case. The phenotypes of the two patients are strikingly similar. Distinctive features include excessive weight gain during the first 30 months, macrocephaly, frontal bossing, rounded face, mild synophyrs, slightly upslanting eyes, short palpebral fissures, broad nasal bridge, low set ears, prominent philtrum, long eyelashes, and delayed psychomotor development.

PMID:
12955770
DOI:
10.1002/ajmg.a.20265
[Indexed for MEDLINE]
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