Genetic analysis of a rare case with Kallman syndrome and steroid sulfatase deficiency.
- VernacularTitle:一例Kallman综合征伴类固醇硫酸酯酶缺陷症患者的遗传学分析
- Author:
Xingui LIU
1
;
Nan BAI
;
Xiangdong KONG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Humans; Ichthyosis, X-Linked; genetics; Kallmann Syndrome; genetics; Karyotyping; Male; Polymerase Chain Reaction; Polymorphism, Single Nucleotide
- From: Chinese Journal of Medical Genetics 2016;33(3):349-352
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the pathogenesis of a patient featuring azoospermia and steroid sulfatase deficiency.
METHODSPolymerase chain reaction (PCR), G-banded karyotyping and Illumina Human CytoSNP-12 Beadchip analysis were conducted.
RESULTSSTS sites PCR showed that there was no deletion in the AZF zone. G-banding analysis indicated an unknown structural change in chromosome X, which was verified by single nucleotide polymorphism array (SNP array) as a 5.4 Mb deletion in Xp22.31-p22.33.
CONCLUSIONThe Xp22.31-p22.33 deletion probably underlies the Kallman syndrome and steroid sulfatase defect in the patient.
