Objective: To diagnose and fine map a deletion in chromosome region 2q37.
Methods: G-banded chromosomal karyotyping, multiplex ligation-dependent probe amplification (MLPA), single nucleotide polymorphism array (SNP-array), and fluorescence in situ hybridization (FISH) were carried out in conjunct for the analysis.
Results: The patient was found to have karyotype of 46,XY,del(2)(q3?), MLPA revealed one copy number of both CAPN10-3 and ATG4B-7 genes from the 2q37.3 region, Both parents were found to be normal upon chromosome karyotyping and MLPA. SNP-array has found a 9.7 Mb deletion in the 2q37.1.37.3 region. FISH analysis has confirmed there is a single copy for 2q37.3.
Conclusion: Combination of MLPA, FISH and SNP-array have enabled accurate diagnosis for the patient, and also provided more clues for the correlation of genotype with the phenotype of the disease, and a basis for genetic counseling.