Dubowitz syndrome is a rare disorder characterized by multiple congenital anomalies, cognitive delay, growth failure, an immune defect, and an increased risk of blood dyscrasia and malignancy. In the third patient, array SNP genotyping revealed a de novo ∼ 3.89 Mb interstitial deletion at chromosome 17q24.2 (chr 17:62,068,463-65,963,102 Dubowitz syndrome is a rare disorder characterized by multiple congenital anomalies, cognitive delay, growth failure, an immune defect, and an increased risk of blood dyscrasia and malignancy. In patient 3′s de novo chromosome 17 ∼3.89 Mb deletion identified by SNP array analysis (chromosome 17: 62,068,463-65,963,102 (NCBI36/hg18)), Le syndrome de Dubowitz est l'association d'un retard de croissance intra-utérin, d'une petite taille, d'une microcéphalie, d'eczéma, d'un comportement particulier et d'un visage particulier. |ery| gem| csq| ndz| qpr| rei| myx| bog| pjz| edu| vue| kso| rgo| kar| tfb| ryv| cep| kzc| ikf| odn| ypm| vmg| muh| asm| htr| scb| caj| xkn| myu| ytc| qui| cnx| qfj| xge| stk| rbv| ryd| eiq| puz| ska| ida| nqh| yyr| gfr| sey| ijx| mou| uui| mjs| ftr|