Literature DB >> 10649793

Wolf-Hirschhorn syndrome (WHS): a history in pictures.

A Battaglia1, J C Carey, D H Viskochil, P Cederholm, J M Opitz.   

Abstract

The Wolf-Hirschhorn syndrome (WHS) is a well known chromosomal disorder, due to a deletion of distal chromosome 4p. The classical gestalt is striking and poses few diagnostic problems. However, due to the difficulty of detecting very small deletions by standard cytogenetics, diagnosis can be sometimes very difficult, particularly in older patients. In this paper we show the changes, occurring over time, in facial appearance of affected individuals, to improve insight into the evolution of the phenotype, and to increase its diagnostic potential.

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Year:  2000        PMID: 10649793     DOI: 10.1097/00019605-200009010-00005

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  2 in total

1.  Clinical utility gene card for: Wolf-Hirschhorn (4p-) syndrome.

Authors:  Agatino Battaglia; Sarah South; John C Carey
Journal:  Eur J Hum Genet       Date:  2010-12-08       Impact factor: 4.246

2.  A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations.

Authors:  Thomas Iype; Vafa Alakbarzade; Mary Iype; Royana Singh; Ajith Sreekantan-Nair; Barry A Chioza; Tribhuvan M Mohapatra; Emma L Baple; Michael A Patton; Thomas T Warner; Christos Proukakis; Abhi Kulkarni; Andrew H Crosby
Journal:  BMC Med Genet       Date:  2015-11-10       Impact factor: 2.103

  2 in total

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