Partial Trisomy 14 (q23 Leads to Qter) Via Segregation of a 14/X Translocation

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1983 Jul 1

PMID 6881140

Citations 4

Authors

M M COHEN

J Charrow

N E Balkin

C J Harris

Affiliations

Soon will be listed here.

Abstract

An infant with delayed development and multiple congenital anomalies was found to possess a duplication of 14q23 leads to qter. This imbalance arose through segregation of a maternal 14/X translocation, observed in only 28% of the mother's cells. Although the X-chromosome-derived portion of the translocation was late replicating in the proposita, the autosomal segment was not inactivated, leading to functional trisomy for distal 14q. Phenotypic comparison to cases with similar duplications does not allow the clinical description of a partial trisomy syndrome.

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