Fluorescence in situ hybridization and single nucleotide polymorphism of a new case with inv dup del(8p).
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.
Caglayan
A O
AO
Kayseri Education and Research Hospital, Department of Medical Genetics, Kayseri, Turkey. okaycaglayan@yahoo.com
Engelen
J J M
JJ
Ghesquiere
S
S
Alofs
M
M
Saatci
C
C
Dundar
M
M
D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis*; D007446:Chromosome Inversion; D002898:Chromosomes, Human, Pair 8; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D046228:Microarray Analysis; D020641:Polymorphism, Single Nucleotide; D014421:Turkey