One case of 2q37 deletion syndrome: clinical and genetic diagnosis.
- Author:
Qian GENG
1
;
Jian-sheng XIE
2
;
Wei-qing WU
1
;
Fu-wei LUO
1
;
Wu-bin CHEN
1
Author Information
- Publication Type:Case Reports
- MeSH: Abnormalities, Multiple; genetics; Chromosome Deletion; Chromosomes, Human, Pair 2; genetics; Comparative Genomic Hybridization; Female; Genetic Association Studies; Humans; Infant, Newborn; Karyotyping; Multiplex Polymerase Chain Reaction; Phenotype; Translocation, Genetic
- From: Chinese Journal of Pediatrics 2013;51(12):934-937
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo diagnose a new born baby with 2q37 deletion syndrome by comprehensive use of cytogenetic and molecular techniques and to investigate the phenotype characteristics and applicability of array-comparative genomic hybridization (array-CGH) and multiplex ligation-dependent probe amplification (MLPA) for detection of this syndrome.
METHODFollowing conventional chromosome preparation, G banded karyotyping was performed.Genomic DNA was extracted using standard procedures, which were then analyzed by array-CGH and MLPA.
RESULTThe patient presented with a typical face, special fist posture and congenital heart disease in 2q37 deletion syndrome. A 4.709 Mb deletion at 2q37.3 (chr2:237, 967, 852-242, 677, 269.NCBI36/hg18, including genes from COL6A3 toPDCD1) was detected by array-CGH. The results of MLPA and G banded karyotyping confirmed the existence of this deletion.
CONCLUSION2q37.3 deletion was determined to be the cryptic cause of this case.2q37 deletion syndrome has some clinically recognizable characteristics. And array-CGH is a powerful technique for the accurate diagnosis and genotype-phenotype correlation study of this syndrome.
