Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4p.
BACKGROUND
Wolf-Hirschhorn syndrome (WHS) is caused by a deletion involving the 4p16.3 region. Approximately 70% of WHS patients have a de novo isolated deletion and 22% involve unbalanced translocations. However, WHS with unbalanced rearrangements involving the short arm of an acrocentric chromosome are infrequently reported.


METHODS
Cytogenetic and molecular analyses by using standard G-banding, argyrophilic nucleolar organiser region (Ag-NOR) staining, fluorescence in situ hybridization, and single nucleotide polymorphism array for copy number detection were performed in three patients with WHS phenotype from two Chinese families.


RESULTS
A heterozygous 2,767,380-bp terminal 4p deletion was detected in patients 1 and 2 and a heterozygous 5,047,291-bp terminal 4p deletion was detected in patient3. Clinical comparisons among our patients and previously reported cases have been reviewed.


CONCLUSIONS
Two terminal 4p deletions were identified in three WHS patients with a satellited 4p and an attempt was made to refine the genotypic-phenotypic correlations of the deleted regions.
State Key Laboratory of Medical Genetics, Central South University, Changsha, China.
Desheng
D
Liang
Zhongmin
Z
Zhou
Dahua
D
Meng
Juan
J
Du
Juan
J
Wen
Norio
N
Niikawa
Lingqian
L
Wu
D002648:Child; D002675:Child, Preschool; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic; D054877:Wolf-Hirschhorn Syndrome / Q000235:genetics*