Detection of a patient with ring chromosome 15 by low-coverage massively parallel copy number variation sequencing / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the genetic cause for a child with developmental delay.</p><p><b>METHODS</b>The karotypes of the child and her parents were analyzed with G-banding analysis. Their genome DNA was analyzed with low-coverage massively parallel copy number variation sequencing (CNV-seq) and verified by single nucleotide polymorphism array (SNP-array).</p><p><b>RESULTS</b>The karyotype of the child was ascertained as 46,XX,r(15)(p13q26.3), while both parents showed a normal karyotype. CNV-seq and SNP-array have identified a de novo 15q26.2-q26.3 deletion in the child with a size of approximately 3.60 Mb.</p><p><b>CONCLUSION</b>The abnormal phenotype of the patient carrying the ring chromosome 15 may be attributed to the presence of the 15q26.2-q26.3 microdeletion. The deletion and haploinsufficiency of the IGF1R gene probably underlie the main clinical features of the patient.</p>