Duplication of Distal 17q from a Maternal Translocation: an Additional Case with Some Unique Features

Overview

Journal J Med Genet

Specialty Genetics

Date 1989 Sep 1

PMID 2810342

Citations 4

Authors

A Caine

D M Knapton

R F MUELLER

P J Congdon

D Haigh

Affiliations

Soon will be listed here.

Abstract

A female with multiple dysmorphic features was found to have an unbalanced karyotype with duplication of the distal long arm of chromosome 17 and deletion of the terminal region of the short arm of chromosome 12. This was derived from a reciprocal translocation in the mother, 46,XX,t(12;17)(p13.3;q23). Clinical findings are presented and comparison with other reported cases of distal 17q duplication shows several unique features in our case.

Citing Articles

Clinical and Molecular Cytogenetic Characterization of 2 Sibling Cases with 17q25 Duplication due to Unbalanced Translocation.

Chen N, Zeng W, Luo Y, Dong M Mol Syndromol. 2024; 15(6):495-502.

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Genetic Analysis of 17q Terminal Partial Trisomy.

Zheng H, Zheng L, Huang Z, Li G, Tang D, Yang X Clin Case Rep. 2024; 12(12):e9611.

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A case report of chromosome 17q22-qter trisomy with distinct clinical presentation and review of the literature.

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Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation.

Kingston H, Ledbetter D, Tomlin P, Gaunt K J Med Genet. 1996; 33(1):69-72.

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