[One case of 2q37 deletion syndrome: clinical and genetic diagnosis].
OBJECTIVE
To 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.


METHODS
Following conventional chromosome preparation, G banded karyotyping was performed.Genomic DNA was extracted using standard procedures, which were then analyzed by array-CGH and MLPA.


RESULTS
The 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.


CONCLUSIONS
2q37.3 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.
Central Laboratory, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen 518048, China.
Qian
Q
Geng
Central Laboratory, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen 518048, China. Email: jianshengxie2000@aliyun.com).
Jian-sheng
JS
Xie
Central Laboratory, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen 518048, China.
Wei-qing
WQ
Wu
Central Laboratory, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen 518048, China.
Fu-wei
FW
Luo
Central Laboratory, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen 518048, China.
Wu-bin
WB
Chen
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D060885:Multiplex Polymerase Chain Reaction; D010641:Phenotype; D014178:Translocation, Genetic