Phenotypic and genetic analysis of a boy with a 10p15.3 deletion and partial trisomy 18p syndrome / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To delineate the nature and origin of chromosomal aberration in a girl with mental retardation.@*METHODS@#Genomic DNA was analyzed by using single nucleotide polymorphism-based array (SNP array). The proband and her parents were subjected to routine G-banded chromosomal karyotyping analysis.@*RESULTS@#SNP array has identified a 1.2 Mb microdeletion at 10p15.3 and a duplication at 18p11.21-pter in the proband. The patient was also found to harbor a structural aberration involving 10p. The karyotype of her father was 46,XY,t(10;18)(p15;p11.2), while her mother was found to be normal.@*CONCLUSION@#The structural aberration of 10p carried by the patient has derived from her father whom has carried a balanced translocation of t(10;18). Her karyotype was finally determined as 46,XX,der(10)t(10;18)(p15;p11.2)pat. The abnormal phenotype of the patient can probably be attributed to the presence of 10p15.3 microdeletion and 18p11.21-pter duplication.