NDLI: Deletion and duplication of 11p13-11p14: reciprocal aberrations derived from a paternal insertion.

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Deletion and duplication of 11p13-11p14: reciprocal aberrations derived from a paternal insertion.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Dolan, Michelle Berry, Susan A. Rubin, Karol R. Hirsch, Betsy
Description	Country affiliation: United States Author Affiliation: Dolan M ( Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota 55455, USA. dolan009@umn.edu)
Abstract	More than 100 cases of deletions that span 11p13-11p14 resulting in WAGR syndrome have been reported in the literature. In contrast, reports of duplications spanning this region are extremely rare. We here report on a deletion of 11p13-11p14 identified in a neonate with severe congenital anomalies including genitourinary abnormalities and aniridia, and the reciprocal duplication identified in his healthy older sibling. Both were derived from a paternal balanced insertion of the 11p region into 18q. The deletion and duplication were characterized by G-banding, FISH and array CGH, and are estimated to include approximately 5.5-5.8 Mb. This single family report highlights the mild phenotypes that can be associated with duplications of chromosomal regions, even those that are larger than 5 Mb and harbor known disease-related genes, and highlights the impact of identifying balanced carrier status in a parent for accurate genetic counseling.
File Format	HTM / HTML
ISSN	15524825
Issue Number	11
Volume Number	155A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2011-11-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Abnormalities, Multiple Genetics Chromosome Deletion Chromosome Duplication Chromosomes, Human, Pair 11 Abnormal Karyotype Diagnosis Child, Preschool Chromosome Breakpoints Chromosomes, Human, Pair 18 Comparative Genomic Hybridization Fatal Outcome Genetic Testing Genome, Human Humans In Situ Hybridization, Fluorescence Infant, Newborn Inheritance Patterns Male Metaphase Pedigree Phenotype Physical Examination Case Reports Journal Article
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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