KMID : 0985420200420040224
|
|
Laboratory Medicine and Quality Assurance 2020 Volume.42 No. 4 p.224 ~ p.228
|
|
A Case of an Interstitial Deletion in Chromosome 1p Confirmed by Array Comparative Genome Hybridization
|
|
Park Mi-Jung
Kim Shin-Hye Lim Dong-Ju Yoo Soo-Jin
|
|
Abstract
|
|
|
Deletion in chromosome 1p is a rare chromosomal abnormality, and its genotype-phenotype correlation has not yet been clearly determined. Here, we report the molecular cytogenetic findings and clinical manifestations observed in a patient with an interstitial deletion in the short arm of chromosome 1. The patient was a 12-year-old boy who presented with short stature, intellectual disability, and scoliosis. Array comparative genomic hybridization analysis of peripheral blood revealed a deletion of 6.5 Mb at 1p31.1p31.3. We investigated the genotype-phenotype relationship of 1p deletion based on this and previously reported cases. Deletion of the NEGR1 gene was regarded the causative rearrangement in terms of patients¡¯ intellectual disability and scoliosis. In addition, deletion of the LRRC7 , GADD45 , RPE65 , and CTH genes are also candidates for involvement in developmental delay in chromosome 1p deletion.
|
|
KEYWORD
|
|
Deletion, Chromosome 1, Comparative genomic hybridization
|
|
FullTexts / Linksout information
|
|
|
|
Listed journal information
|
|
|