Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Aberrações Cromossômicas , Deleção Cromossômica , Lissencefalias Clássicas e Heterotopias Subcorticais em Banda , Diagnóstico , Hibridização in Situ Fluorescente , Síndrome de Angelman/diagnóstico , Síndrome de Kallmann/diagnóstico , Síndrome de Prader-Willi/diagnóstico , Síndrome de Smith-Magenis/diagnóstico , Síndrome de Williams/diagnósticoRESUMO
Deletion and duplication of the -3.7-Mb region in 17p11.2 result in two reciprocal syndrome, Smith-Magenis syndrome and Potocki-Lupski syndrome. Smith-Magenis syndrome is a well-known developmental disorder. Potocki-Lupski syndrome has recently been recognized as a microduplication syndrome that is a reciprocal disease of Smith-Magenis syndrome. In this paper, we report on the clinical and cytogenetic features of two Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome. Patient 1 (Smith-Magenis syndrome) was a 2.9-yr-old boy who showed mild dysmorphic features, aggressive behavioral problems, and developmental delay. Patient 2 (Potocki-Lupski syndrome), a 17-yr-old boy, had only intellectual disabilities and language developmental delay. We used array comparative genomic hybridization (array CGH) and found a 2.6 Mb-sized deletion and a reciprocal 2.1 Mb-sized duplication involving the 17p11.2. These regions overlapped in a 2.1 Mb size containing 11 common genes, including RAI1 and SREBF.