Ring chromosome 3 in a retarded boy

We present a boy with the karyotype 46,XY,r3 and a phenotype with psychomotor and growth retardation, craniofacial anomalies, syndactyly of the toes, and edema of the feet. The karyotypes and phenotypes of both parents are normal.

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Bibliographic Details
Published in:Human genetics 1978-01, Vol.42 (3), p.345-348
Main Authors: Witkowski, R, Ullrich, E, Piede, U
Format: Article
Language:English
Subjects:
Child, Preschool
Chromosome Aberrations
Chromosomes, Human, 1-3
Edema - genetics
Growth Disorders - genetics
Humans
Intellectual Disability - genetics
Karyotyping
Male
Pedigree
Phenotype
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Description
Summary:We present a boy with the karyotype 46,XY,r3 and a phenotype with psychomotor and growth retardation, craniofacial anomalies, syndactyly of the toes, and edema of the feet. The karyotypes and phenotypes of both parents are normal.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00291318