A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome.

doi:10.1136/jmg.28.9.639

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Article

A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome.

Journal of medical genetics - 1 Sept 1991

Ireland M, English C, Cross I, Houlsby W T, Burn J

Abstract excerpt

A female infant with Cornelia de Lange syndrome and severe limb reduction defects is described. Chromosome analysis showed a de novo translocation with breakpoints at 3q26.3 and 17q23.1. This is the first reported case of a de novo translocation associated with this syndrome.

Topics

Abnormalities, Multiple
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 17
Chromosomes, Human, Pair 3
De Lange Syndrome
Ectromelia
Face
Female
Humans
Infant, Newborn
Phenotype
Translocation, Genetic

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