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Article

Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.

American journal of medical genetics - 18 Sept 2000

Zollino M, Di Stefano C, Zampino G, Mastroiacovo P, Wright T J, Sorge G, Selicorni A, Tenconi R, Zappalà A, Battaglia A, Di Rocco M, Palka G, Pallotta R, Altherr M R, Neri G

Abstract excerpt

We report on a clinical-genetic study of 16 Wolf-Hirschhorn syndrome (WHS) patients. Hemizygosity of 4p16.3 was detected by conventional prometaphase chromosome analysis (11 patients) or by molecular probes on apparently normal chromosomes (4 patients). One patient had normal chromosomes without a detectable molecular deletion within the WHS "critical region." In each deleted patient, the deletion was...

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PMID: 10995514
DOI: 10.1002/1096-8628(20000918)94:3<254::aid-ajmg13>3.0.co;2-7

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