[Phenotypic and genetic analysis of an inv dup(15) case with a BP3:BP3 rearrangement].

Objective: To analyze a case of supernumerary marker chromosome (SMC) with combined genetic techniques and explore its correlation with the clinical phenotype.

Methods: The 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).

Results: G-banding analysis indicated that the patient has a karyotype of 47,XX,+mar.

[Analysis of APC gene mutation in a familial adenomatous polyposis pedigree].

Objective: To analyze mutation of adenomatous polyposis coli (APC) gene in a family affected with familial adenomatous polyposis.

Methods: The diagnosis was made based on clinical manifestations, family history, presence of numerous polyps in the colon as well as pathological examination. Peripheral blood samples were collected, and genomic DNA was extracted.

[Analysis of small supernumerary marker chromosome 15q11 in four infertile males].

Objective: To delineate the origins of small supernumerary marker chromosomes (sSMCs) identified in 4 infertile males.

Methods: The sSMCs were analyzed with combined G-banding, N-banding, multiplex ligation-dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH) and single nucleotide polymorphisms array (SNP-array) techniques.

Results: G-banding analysis has suggested a 46,X,-Y,+mar karyotype in all of the 4 cases.