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J Med Genet. 1987 Nov;24(11):709-12.

Deletion 15q21.1----q22.1 resulting from a paternal insertion into chromosome 5.

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1
Cytogenetics Unit, Prince of Wales Hospital, Sydney, Australia.

Abstract

A 15 month old boy with an interstitial deletion 15q derived from a paternal insertion (5;15)(q31.3;q21.1q22.1) is described and compared with one other reported case. A beak like nose with hypoplastic nasal alae, a thin upper lip, failure to thrive in infancy with later onset of obesity, and severe mental retardation are features common to both.

PMID:
3430549
PMCID:
PMC1050353
[Indexed for MEDLINE]
Free PMC Article
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