[Genetic analysis for 2 females carrying idic(Y)(p) and with sex development disorders].

Objective: To investigate the phenotype-genotype association of isodicentromere Y chromosome by analysis of two female patients carrying the chromosome with sexual development disorders.

Methods: The karyotypes of the two patients were determined by application of conventional G banding of peripheral blood samples and fluorescence in situ hybridization (FISH). PCR was applied to detect the presence of SRY gene.

[Study of a Bethlem myopathy pedigree resulted from a novel mutation of COL6A3 gene].

Objective: To determine the molecular etiology for a muscular dystrophy pedigree with target region sequencing platform using hereditary myopathy capture array.

Methods: Specific gene testing was performed based on the clinical diagnosis. Since no pathogenic mutation was found, target region sequencing with hereditary myopathy capture array combined with Sanger sequencing and bioinformatics analysis were employed in turn.

[Analysis of a novel mutation of AR gene in a patient featuring mild androgen insensitivity syndrome].

Objective: To investigate the clinical and molecular genetics characteristics of a patient with mild androgen insensitivity syndrome (MAIS).

Methods: Clinical data of the patient was collected, and DNA was isolated from peripheral blood sample. Eight exons of AR gene were amplified by PCR with specific primers and directly sequenced by Sanger method.