Deletion 22q11.2: Report of a complex meiotic mechanism of origin | Zendy

Nogueira Sintia Iole | Zendy; Hacker April M. | Zendy; Bellucco Fernanda T. S. | Zendy; Kulikowski Leslie Domenici | Zendy; Christofolini Denise Maria | Zendy; Cernach Mirlene C. | Zendy; Melaragno Maria Isabel | Zendy; Emanuel Beverly S. | Zendy

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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.

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