One case of 2q37 deletion syndrome: clinical and genetic diagnosis / 中华儿科杂志

ABSTRACT

<p><b>OBJECTIVE</b>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.</p><p><b>METHOD</b>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.</p><p><b>RESULT</b>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 (chr2237, 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.</p><p><b>CONCLUSION</b>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.</p>