Objective To investigate the clinical features and genetic characteristics of deletions of the long-arm of chromosome 1 which is rare seen clinically. Methods The clinical data from one child with chromosome 1 deletion who is severely dwarf and has development delay were analyzed, and relevant literatures were reviewed. Results Three-year-old boy had intrauterine growth retardation, postnatal growth restriction and special face, with multiple malformations (short finger, wide finger, small head deformity, etc.), cryptorchidism, small penis, language retardation. Chromosomal microarray analysis results demonstrated a 14615 kb heterozygous deletion in 1q24.3-1q25.3. Conclusions The 14615 kb heterozygous deletion in 1q24.31q25.3 is the pathogenic factor in this child.
LI Qun
,
LI Xin
,
SHEN Yiping
,
WANG Xiumin
,
WANG Yirou
,
CHENTG Qing
,
LI Juan
,
WANG Jian
,
SHEN Yongnian
. Chromosome fragment 1q24.3-q25.3 deletion: a case report and literature review[J]. Journal of Clinical Pediatrics, 2018
, 36(7)
: 545
.
DOI: 10.3969/j.issn.1000-3606.2018.07.017
