Combined spectral karyotyping and microarray-based comparative genomic hybridization for the diagnosis of a case with ring chromosome 15.

Author: Min PAN ¹ ; Kwong Wai CHOY ; Can LIAO ; Tze Kin LAU
Author Information

1. Guangzhou Medical College, Guangzhou, Guangdong, People's Republic of China.
Publication Type:Journal Article
MeSH: Child; Chromosomes, Human, Pair 15; Comparative Genomic Hybridization; methods; Humans; Male; Mosaicism; Oligonucleotide Array Sequence Analysis; Ring Chromosomes; Spectral Karyotyping
From: Chinese Journal of Medical Genetics 2012;29(5):562-565
CountryChina
Language:Chinese
Abstract:
OBJECTIVETo assess the value of spectral karyotyping (SKY) combined with microarray-based comparative genomic hybridization (array-CGH) for the diagnosis of complex ring chromosome aberration.
METHODSFor an 8-year-old boy featuring growth retardation, G-banding analysis has indicated a 46,XY,r(15)? karyotype, which was delineated by SKY in combination with array-CGH.
RESULTSThe ring chromosome has originated from chromosome 15 according to SKY analysis. Position of the breakpoint (15q26.3) and a 594 kb deletion were revealed by array-CGH.
CONCLUSIONMolecular cytogenetic technologies are efficient tools for clarifying complex chromosomal abnormality, which has provided a powerful tool for conventional cytogenetic analysis.