The new Wolf–Hirschhorn syndrome critical region (WHSCR‐2): A description of a second case

The Wolf–Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and mental retardation and seizures. The currently accepted WHS critical region (WHSCR) is loc...

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics. Part A 2005-07, Vol.136A (2), p.175-178
Main Authors: Rodríguez, Laura, Zollino, Marcella, Climent, Salvador, Mansilla, Elena, López‐Grondona, Fermina, Martínez‐Fernández, María Luisa, Murdolo, Marina, Martínez‐Frías, María Luisa
Format: Article
Language:English
Subjects:
4p subtelomeric deletion
4p16.3
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 4 - genetics
Female
FISH
Growth Disorders - pathology
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Psychomotor Disorders - pathology
Seizures - pathology
Syndrome
WHSCR
WHSCR‐2
Wolf–Hirschhorn syndrome
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:The Wolf–Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and mental retardation and seizures. The currently accepted WHS critical region (WHSCR) is localized between the loci D4S166 and D4S3327, where a deletion seems to generate all the clinical manifestations of the syndrome. Here we present a patient with a subtelomeric deletion of 4p16.3 showing growth and psychomotor delay with a typical WHS facial appearance and two episodes of seizures in conjunction with fever. The high‐resolution G‐banded karyotype was normal. Fluorescence in situ hybridization (FISH) with a set of cosmids from 4p16.3, showed that the deletion in this patient was from the D4S3327 to the telomere, enabling the size of the deletion to be estimated as 1.9 Mb, excluding the accepted WHSCR deletion. This patient supports the recent proposal by Zollino et al. [2003] that the critical region for WHS is located distally to the WHSCR between the loci D4S3327 and D4S98‐D4S16, and it is called “WHSCR‐2” [Zollino et al., 2003]. © 2005 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.30775