A case of partial trisomy 17 resulting from X-autosomal translocation.

Journal of medical genetics ·Vol. 16 ·No. 5 ·1979-10-00 ·Pages 395-9

Yamamoto Y, Endo Y, Kuroki Y

Abstract

A case of partial trisomy 17 with partial monosomy X resulting from a maternal X-autosomal translocation t(X;17)(q13;q21) is presented. Three previously reported cases are reviewed and the phenotypic features of trisomy 17 are discussed.

MeSH Terms

Child, Preschool Chromosome Banding Chromosomes, Human, 16-18 Congenital Abnormalities/genetics Dermatoglyphics Female Humans Intellectual Disability/genetics Karyotyping Sex Chromosomes Translocation, Genetic Trisomy X Chromosome

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Yamamoto Y

Endo Y

Kuroki Y

References (5)

5 references, click to expand

Trisomy 17 in two abortuses.
Jinrui Idengaku Zasshi. 1977 Mar;21(4):257-60 PMID: 559817
[The mechanism of chromosome segmentation induced by BUDR (5-bromodeoxyuridine)].
Ann Genet. 1974 Sep;17(3):207-11 PMID: 4141588
Trisomy of the short arm of chromosome 17.
Humangenetik. 1974;23(3):213-7 PMID: 4135958
Identification of isochromosome 17 in a girl with mental retardation and congenital malformations.
Ann Genet. 1975 Dec;18(4):235-8 PMID: 1083191
An extra small metacentric chromosome identified as a deleted chromosome no. 17.
Clin Genet. 1976 May;9(5):454-58 PMID: 1269167

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

10.1136/jmg.16.5.395

Published

1979-10-00

Pages

395-9

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1012618

Subset

External Links

PubMed source DOI: 10.1136/jmg.16.5.395 PMC Full Text View journal details

Analysis Services

A case of partial trisomy 17 resulting from X-autosomal translocation.

Contact

WeChat Official Account