A Case of Partial Trisomy 17 Resulting from X-autosomal Translocation

Overview

Journal J Med Genet

Specialty Genetics

Date 1979 Oct 1

PMID 513087

Citations 11

Authors

Y Yamamoto

Y Endo

Y Kuroki

Affiliations

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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.

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A molecular, cytogenetic, and clinical evaluation of mosaic tandem duplication 17p and Charcot-Marie-Tooth type 1A neuropathy.

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X-autosome translocation with a breakpoint in Xq22 in a fertile woman and her 47,XXX infertile daughter.

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