Interstitial deletion of chromosome 13: prognosis and adult phenotype.

doi:10.1136/jmg.28.8.533

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Article

Interstitial deletion of chromosome 13: prognosis and adult phenotype.

Journal of medical genetics - 1 Aug 1991

Dean J C, Simpson S, Couzin D A, Stephen G S

Abstract excerpt

A de novo interstitial deletion of chromosome 13 (46,XY,del(13)(pter----q14.3::q22.3----qter] is described in a 22 year old man with severe mental retardation, poor language development, low set ears, hypertelorism, broad nasal bridge, short hands and fingers, and a history of swallowing disorder...

Topics

Abnormalities, Multiple
Adult
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, Pair 13
Dyspepsia
Humans
Hypertelorism
Intellectual Disability
Karyotyping
Male
Phenotype
Prognosis

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