Genetic analysis of a family with super-male syndrome.
- Author:
Jianlin ZHANG
1
;
Haibo LI
;
Shenghua JIANG
;
Ying CHEN
;
Yuquan ZHANG
Author Information
- Publication Type:Case Reports
- MeSH: Child, Preschool; Humans; In Situ Hybridization, Fluorescence; Male; Multiplex Polymerase Chain Reaction; Sex Chromosome Disorders; genetics; XYY Karyotype; genetics
- From: Chinese Journal of Medical Genetics 2014;31(2):210-213
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify the genetic cause for a family featuring language retardation using combined cytogenetic and molecular genetic methods.
METHODSFollowing conventional G-banded karyotype analysis, the additional Y chromosome was identified by fluorescence in situ hybridization (FISH) and multiplex ligation dependent probe amplification (MLPA). Whole genome array comparative genomic hybridization (aCGH) was also carried out to detect minor structural chromosomal abnormalities.
RESULTSThe proband's karyotype was determined as 47,XY,+?, and the unknown aberrant chromosome was identified as Yqh+ with FISH, MLPA and aCGH. No other chromosomal abnormality was found in the pedigree.
CONCLUSIONCytogenetic methods combined with FISH, MLPA, and aCGH can efficiently identify the origin of unknown chromosomes and provide accurate clues for clinical diagnosis and treatment.
