Duplication (17p) in a Child with an Isodicentric (17p) Chromosome

Overview

Journal Am J Med Genet

Specialty Genetics

Date 1983 Jan 1

PMID 6681937

Citations 5

Authors

J T Mascarello

M C Jones

H E Hoyme

M M Freebury

Affiliations

Soon will be listed here.

Abstract

We present a child with multiple structural defects due to duplication of the short arm and a small portion of the long arm of chromosome 17. Three children with similar cytogenetic abnormalities have been reported previously. The karyotype contained an isodicentric chromosome derived from chromosome 17. A clue to the mechanism that produced the isochromosome was retained in the genome in the form of a part of the chromosome 17 long arm which was attached to the short arm of a chromosome 10.

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