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Article

Mother to son amplification of a small subtelomeric deletion: A new mechanism of familial recurrence in microdeletion syndromes

4 May 2007

Abstract excerpt

A 2.8-Mb 4p16.3 terminal deletion, with proximal breakpoint at locus D4S182, was diagnosed by FISH in a 16-year-old boy who presented with a typical Wolf-Hirschhorn syndrome (WHS) phenotype. The deletion, which was maternally derived, was isolated, and a balanced translocation was ruled out in both parents by FISH with probe 33c6 (locus D4S43) falling within the patient's deletion interval, at a distance of about...

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Share to Chromosomal and Genetic Variations
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

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Identifiers

PMID: 17480006
DOI: 10.1002/ajmg.a.31723

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