Holoprosencephaly Due to Numeric Chromosome Abnormalities

Overview

Journal Am J Med Genet C Semin Med Genet

Specialty Genetics

Date 2010 Jan 28

PMID 20104610

Citations 15

Authors

Benjamin D Solomon

Kenneth N Rosenbaum

Jeanne M Meck

Maximilian Muenke

Affiliations

Soon will be listed here.

Abstract

Holoprosencephaly (HPE) is the most common malformation of the human forebrain. When a clinician identifies a patient with HPE, a routine chromosome analysis is often the first genetic test sent for laboratory analysis in order to assess for a structural or numerical chromosome anomaly. An abnormality of chromosome number is overall the most frequently identified etiology in a patient with HPE. These abnormalities include trisomy 13, trisomy 18, and triploidy, though several others have been reported. Such chromosome number abnormalities are almost universally fatal early in gestation or in infancy. Clinical features of specific chromosome number abnormalities may be recognized by phenotypic manifestations in addition to the HPE.

Citing Articles

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