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  • Title: Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4p.
    Author: Liang D, Zhou Z, Meng D, Du J, Wen J, Niikawa N, Wu L.
    Journal: Birth Defects Res A Clin Mol Teratol; 2012 Jul; 94(7):549-52. PubMed ID: 22641563.
    Abstract:
    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. CONCLUSION: 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.
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