[Cytogenetic and molecular analysis of a case of Prader-Willi syndrome].

Objective: To investigate the significance of cytogenetic and molecular genetic diagnosis of a special type of secondary sexual dysplasia and the applicability of various methods for its detection.

Methods: Using karyotype analysis, array comparative genomic hybridization (aCGH), multiplex ligation-dependent probe amplification (MLPA) and methylation-specific PCR (MS-PCR), we diagnosed and differentially diagnosed a case of secondary sexual dysplasia.

Results: Abnormalities were not found in the karyotype analysis or the SRY and AZF gene detection, nor chromosomal duplication and deletion in the initial SurePrint G3 Human CGH Array Kit8×60K.