Journal article
Wolf‐Hirschorn syndrome resulting from partial monosomy 4p/trisomy 9p
Abstract
An infant girl was referred for a genetic consultation because of facial appearance suggestive of Wolf-Hirschorn syndrome (WHS), growth retardation and generalized hypotonia. She had an unbalanced karyotype 46,XX,der(4)t(4;9)(p15.2;p22)mat resulting in the deletion of the critical region for WHS and duplication of the critical region for the 9p duplication syndrome. The mother and the grandmother of proposita were the carriers of an apparently …
Authors
Xu J; Freeman V; Carter RF; Paes B; Heshka T; Nowaczyk MJM
Journal
American Journal of Medical Genetics, Vol. 93, No. 4, pp. 285–289
Publisher
Wiley
Publication Date
August 14, 2000
DOI
10.1002/1096-8628(20000814)93:4<285::aid-ajmg6>3.0.co;2-n
ISSN
0148-7299