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Constitutional trisomy 8 mosaicism due to meiosis II non‐disjunction in a phenotypically normal woman with hematologic abnormalities
Author(s) -
Baidas Said,
Chen TJ.,
Kolev Valentin,
Wong LeeJun,
Imholte Joel,
Qin Naigeng,
Meck Jeanne
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20390
Subject(s) - macrocytosis , meiosis , trisomy , meiosis ii , phenotype , miscarriage , genetics , biology , pregnancy , gene , endocrinology , vitamin b12
Constitutional trisomy 8 mosaicism (CT8M) in liveborns is typically caused by mitotic non‐disjunction and exhibits wide phenotypic variability. By contrast, CT8M due to meiotic errors usually results in miscarriage. We describe a case of CT8M due to a paternal meiosis II non‐disjunction error. The patient, a 32‐year‐old woman, was phenotypically normal except for a history of recurrent aphthous ulcers since childhood and a 4‐year history of macrocytosis. The ulcers were refractory to steroids, but responded well to thalidomide. To the best of our knowledge, this is the first report of CT8M due to meiotic non‐disjunction in a phenotypically normal individual. © 2003 Wiley‐Liss, Inc.