Genetic analysis of a patient featuring developmental delay and mental retardation / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the genetic cause for a child featuring developmental delay and mental retardation.</p><p><b>METHODS</b>The child was analyzed with G-banded karyotyping and an Illumina Human CytoSNP-12 Beadchip.</p><p><b>RESULTS</b>The father of the patient had a normal karyotype. The mother had a karyotype of 46, XX, t(12;15)(p13.3;q13). The child had a karyotype of 45, XY, der(12)t(12;15)(p13.3;q13)mat, -15. SNP array analysis showed that the child has deletions in 12p13.31-p13.33 and 15q11.2-q13.2. But no deletion or duplication was detected in his mother.</p><p><b>CONCLUSION</b>The unbalanced translocation involving chromosomes 12 and 15 probably accounts for the mental retardation in the child. SNP array is useful for the detection of chromosomal rearrangements and genetic counseling.</p>