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

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....

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics. Part A 2007-08, Vol.143A (15), p.1778-1781
Main Authors: 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.
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Cesarean Section
Child
Chromosome Deletion
Chromosome Mapping
Chromosomes, Human, Pair 22
deletion 22q11.2
Female
haplotype reconstruction
Humans
In Situ Hybridization, Fluorescence
mechanism of deletion
Medical genetics
Medical sciences
Meiosis - genetics
Pregnancy
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.31834