Detection of a patient with ring chromosome 15 by low-coverage massively parallel copy number variation sequencing.
- Author:
Qiong PAN
1
;
Li ZHANG
;
Fengting ZHANG
;
Xin JIN
;
Yue HU
;
Liyan ZHU
;
Longfei CHENG
;
Qigang ZHANG
;
Ying NING
Author Information
- Publication Type:Case Reports
- MeSH: Child, Preschool; Chromosome Banding; Chromosomes, Human, Pair 15; genetics; DNA Copy Number Variations; Female; Humans; Karyotyping; Mosaicism; Ring Chromosomes; Sequence Deletion
- From: Chinese Journal of Medical Genetics 2017;34(3):406-410
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the genetic cause for a child with developmental delay.
METHODSThe 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).
RESULTSThe 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.
CONCLUSIONThe 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.
