Lab Med Qual Assur.  2020 Dec;42(4):224-228. 10.15263/jlmqa.2020.42.4.224.

A Case of an Interstitial Deletion in Chromosome 1p Confirmed by Array Comparative Genome Hybridization

• Park MJ
• Kim SH
• Lim DJ
• Yoo SJ

• KMID: 2510305
• DOI: http://doi.org/10.15263/jlmqa.2020.42.4.224

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