RESUMO

The 11q terminal deletion disorder is a rare genetic disorder associated with numerous clinical features. A few case reports have been made about de novo interstitial deletion of chromosome 11q. However, due to the heterogeneity in size and position of the deletions, a clear genotype-phenotype correlation is not easily made. Here we report a case interstitial 20.5-Mb deletion at chromosome 11q13.4q21, as confirmed by array comparative genomic hybridization. Dysmorphic features such as coarse facial features, congenital laryngomalacia, oblique inguinal hernia, high-arched palate, and camptodactyly were observed in the subject. The present case broadens the spectrum of clinical findings observed in individuals with 11q interstitial deletion.

Assuntos

Deleção Cromossômica , Cromossomos Humanos Par 11 , Síndrome da Deleção Distal 11q de Jacobsen/genética , Cariótipo Anormal , Anormalidades Múltiplas/genética , Hibridização Genômica Comparativa , Humanos , Recém-Nascido , Síndrome da Deleção Distal 11q de Jacobsen/diagnóstico , Masculino , Fenótipo