Phenotypic and genetic analysis of an inv dup(15) case with a BP3:BP3 rearrangement.
- Author:
Fuchun ZHONG
1
;
Fenghua LAN
;
Xiao ZHANG
;
Yuxiang LIN
;
Yanhong LIN
;
Aizhen YAN
;
Xiangdong TU
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Chromosome Banding; Chromosome Disorders; genetics; Chromosomes, Human, Pair 15; genetics; Female; Gene Rearrangement; Humans; In Situ Hybridization, Fluorescence; Karyotyping
- From: Chinese Journal of Medical Genetics 2017;34(3):402-405
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze a case of supernumerary marker chromosome (SMC) with combined genetic techniques and explore its correlation with the clinical phenotype.
METHODSThe SMC was analyzed with G-banded karyotyping, multiplex ligation dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH), and single nucleotide polymorphism array (SNP-array).
RESULTSG-banding analysis indicated that the patient has a karyotype of 47,XX,+mar. MLPA showed that there were duplications of proximal 15q. FISH assay using D15Z4 probes indicated that the SMC was a pseudodicentric chromosome derived from chromosome 15. And SNP-array revealed that there were two extra copies of 15q11-13 region spanning from locus 20 161 372 to 29 071 810.
CONCLUSIONThe duplication of Prader-Willi/Angelman syndrome critical region probably underlies the abnormal phenotype of the inv dup(15) case with a BP3:BP3 rearrangement.
