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Am J Med Genet. 1995 May 22;57(1):52-6.

Monosomy 9p24-->pter and trisomy 5q31-->qter: case report and review of two cases.

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1
Department of Pediatrics, University of Minnesota, Minneapolis, USA.

Abstract

Partial deletion of the short arm of chromosome 9 (p24-->pter) and partial duplication of the long arm of chromosome 5 (q32-->qter) were observed in an abnormal boy who died at age 8 weeks of a complex cyanotic cardiac defect. He also had minor anomalies, sagittal craniosynostosis, triphalangeal thumbs, hypospadias, and a bifid scrotum. Two other infants with similar cytogenetic abnormalities were described previously. These patients had severe congenital heart defect, genitourinary anomalies, broad nasal bridge, low hairline, apparently low-set ears, short neck, and triphalangeal thumbs, in common with our patient. We suggest that combined monosomy 9p23,24-->pter and trisomy 5q31,32-->qter may constitute a clinically recognizable syndrome.

PMID:
7645598
DOI:
10.1002/ajmg.1320570112
[Indexed for MEDLINE]
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