Direct duplication of 9p22-->p24 in a child with duplication 9p syndrome

A Fujimoto; M S Lin; S Schwartz

Direct duplication of 9p22-->p24 in a child with duplication 9p syndrome

Am J Med Genet. 1998 May 26;77(4):268-71.

Authors

A Fujimoto¹, M S Lin, S Schwartz

Affiliation

¹ Department of Pediatrics, Los Angeles County-University of Southern California Medical Center, and University of Southern California School of Medicine, 90033, USA.

PMID: 9600733

Abstract

A de novo direct duplication of 9p22-->p24 was shown in a child with a duplication 9p phenotype by GTG banding and fluorescence in situ hybridization (FISH) using a chromosome-9 specific painting probe as well as 6 YAC DNA probes localized to the 9p13-9p23 region. The breakpoints in this patient and previously reported patients suggest that 9p22 may be the critical region for duplication 9p syndrome.

Publication types

Case Reports

MeSH terms

Chromosome Aberrations*
Chromosome Banding
Chromosome Disorders*
Chromosomes, Human, Pair 9*
Female
Humans
In Situ Hybridization, Fluorescence
Infant
Multigene Family
Syndrome