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Deletion 22q11.2: Report of a complex meiotic mechanism of origin
Author(s) -
Nogueira Sintia Iole,
Hacker April M.,
Bellucco Fernanda T. S.,
Kulikowski Leslie Domenici,
Christofolini Denise Maria,
Cernach Mirlene C.,
Melaragno Maria Isabel,
Emanuel Beverly S.
Publication year - 2007
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.31834
Subject(s) - haplotype , genetics , mechanism (biology) , biology , meiosis , computational biology , evolutionary biology , gene , genotype , philosophy , epistemology
We report on the case of a patient with a typical de novo 3 Mb 22q11.2 deletion. Haplotype reconstruction of the family, using polymorphic markers flanking the deleted region, demonstrated a complex mechanism of origin of the deletion, involving one intrachromosomal and two interchromosomal events. © 2007 Wiley‐Liss, Inc.