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Article

Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences.

American journal of medical genetics. Part A - 1 Mar 2006

Tzschach Andreas, Krause-Plonka Ines, Menzel Corinna, Kalscheuer Vera, Toennies Holger, Scherthan Harry, Knoblauch Andreas, Radke Michael, Ropers Hans-Hilger, Hoeltzenbein Maria

Abstract excerpt

We report a 2(3/12)-year-old boy with a constitutional interstitial deletion of 5q,46,XY,del(5)(q23.3q31.2) de novo. Clinical manifestations in this patient included failure to thrive, psychomotor retardation, mild facial dysmorphic features, and long and slender fingers and toes. The precise location and extent (9.5 Mb) of the deletion was determined by fluorescence in situ hybridization (FISH) using 19 YAC and...

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PMID: 16470790
DOI: 10.1002/ajmg.a.31105

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Source receipt: pubmed, retrieved 7 Sept 2026.

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