Fluorescence in situ hybridization and single nucleotide polymorphism of a new case with inv dup del(8p)

A O Caglayan; J J M Engelen; S Ghesquiere; M Alofs; C Saatci; M Dundar

Fluorescence in situ hybridization and single nucleotide polymorphism of a new case with inv dup del(8p)

Genet Couns. 2009;20(4):333-40.

Authors

A O Caglayan¹, J J M Engelen, S Ghesquiere, M Alofs, C Saatci, M Dundar

Affiliation

¹ Kayseri Education and Research Hospital, Department of Medical Genetics, Kayseri, Turkey. [email protected]

PMID: 20162868

Abstract

Fluorescence In Situ Hybridization and single nucleotide polymorphism of a new case with inv dup del(8p): Inverted duplication deletion of 8p [inv dup del(8p)] is a complex chromosome rearrangement leading among others to deletion of the chromosome region distal to the duplication in 8p. A new case with an inverted duplication deletion of 8p and the results of SNP-array analysis and fluorescence in situ hybridization (FISH) are reported here. Our results are in concordance with earlier reported inv dup del(8p) cases.

Publication types

Case Reports

MeSH terms

Chromosome Deletion
Chromosome Disorders / diagnosis*
Chromosome Inversion
Chromosomes, Human, Pair 8*
Female
Gene Duplication
Humans
In Situ Hybridization, Fluorescence*
Infant, Newborn
Microarray Analysis*
Polymorphism, Single Nucleotide*
Turkey