A child with partial trisomy of chromosome 17 and partial monosomy of chromosome 3: 46,XY,der(3),t(3;17)(p25;q23)

A male infant with multiple congenital abnormalities and global retardation was found to have a translocation resulting in partial trisomy for the distal end of the long arm of chromosome 3. The phenotypically normal father carried a balanced reciprocal translocation between chromosomes 3 and 17.

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Bibliographic Details
Published in:Journal of medical genetics 1983-10, Vol.20 (5), p.383-385
Main Authors: Shawe, D J, Fear, C, Appleyard, W J
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Biological and medical sciences
Chromosome Aberrations
Chromosomes, Human, 1-3
Chromosomes, Human, 16-18
Developmental Disabilities - genetics
Face - abnormalities
Humans
Infant, Newborn
Intellectual Disability - genetics
Male
Medical genetics
Medical sciences
Translocation, Genetic
Trisomy
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Description
Summary:A male infant with multiple congenital abnormalities and global retardation was found to have a translocation resulting in partial trisomy for the distal end of the long arm of chromosome 3. The phenotypically normal father carried a balanced reciprocal translocation between chromosomes 3 and 17.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.20.5.383