Genetic analysis of a mental retardation patient with a rare karyotype involving complex rearrangements of five chromosomes / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the genetic cause of a female patient with severe mental retardation and a history of adverse pregnancy.</p><p><b>METHODS</b>The patient was subjected to G-banded chromosome analysis and single nucleotide polymorphism array (SNP-array) assaying. The correlation between genomic variations and the phenotype was explored.</p><p><b>RESULTS</b>The patient was found to have a complex chromosome rearrangement involving 5 chromosomes. The karyotypes of her parents were both normal. SNP-array assay has identified a 1.6 Mb microdeletion at chromosome 15q21.3 which involved 15 RefSeq genes and a 0.5 Mb microdeletion at 5q21.1 which involved one RefSeq gene.</p><p><b>CONCLUSION</b>The microdeletions, which involved TCF12, ADMA10 and AQP9 genes, probably underlie the mental retardation shown by the patient.</p>