Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4p.

[wolf-hirschhorn syndrome]

Wolf-Hirschhorn syndrome (WHS ) is caused by a deletion involving the 4 p 16 .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 .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 .A heterozygous 2 ,767 ,380 -bp terminal 4 p deletion was detected in patients 1 and 2 and a heterozygous 5 ,047 ,291 -bp terminal 4 p deletion was detected in patient 3 . Clinical comparisons among our patients and previously reported cases have been reviewed .Two terminal 4 p deletions were identified in three WHS patients with a satellited 4 p and an attempt was made to refine the genotypic-phenotypic correlations of the deleted regions .

Diseases
Validation

Diseases presenting "previously reported cases" symptom

adrenal incidentaloma

alexander disease

alpha-thalassemia

cohen syndrome

cutaneous mastocytosis

erdheim-chester disease

harlequin ichthyosis

kindler syndrome

monosomy 21

neonatal adrenoleukodystrophy

proteus syndrome

pyruvate dehydrogenase deficiency

wolf-hirschhorn syndrome

zellweger syndrome

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