A PATIENT WITH WOLF-HIRSCHHORN-SYNDROME ORIGINATING FROM TRANSLOCATION-T(4-8)(P16.3-Q24.3)PAT

Authors
ELRIFAI W LEISTI J KAHKONEN M PIETARINEN A ALTHERR MR KNUUTILA S
Citation
W. Elrifai et al., A PATIENT WITH WOLF-HIRSCHHORN-SYNDROME ORIGINATING FROM TRANSLOCATION-T(4-8)(P16.3-Q24.3)PAT, Journal of Medical Genetics, 32(1), 1995, pp. 65-67
Citations number
22
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
32
Issue
1
Year of publication
1995
Pages
65 - 67
Database
ISI
SICI code
0022-2593(1995)32:1<65:APWWOF>2.0.ZU;2-T
Abstract
We present here a 7 year old girl with the clinical signs of Wolf-Hirs chhorn syndrome (WHS). Only on high resolution banding was a deletion of 4p16.3 suspected in both the proband and the father. Further studie s using simultaneous R banding and FISH, with cosmid probe pc847.351 c ontaining the mildly repetitive fragment 847EC, confirmed the diagnosi s and showed a paternal balanced translocation t(4;8)(p16.3;q24.3).