Premium
Holoprosencephaly due to numeric chromosome abnormalities
Author(s) -
Solomon Benjamin D.,
Rosenbaum Kenneth N.,
Meck Jeanne M.,
Muenke Maximilian
Publication year - 2010
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.30232
Subject(s) - holoprosencephaly , trisomy , chromosome , chromosome abnormality , abnormality , genetics , biology , etiology , chromosome analysis , monosomy , karyotype , pathology , medicine , fetus , gene , pregnancy , psychiatry
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. Published 2010 Wiley‐Liss, Inc.