Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature.

摘要: We present a boy with blepharophimosis, ptosis, epicanthus inversus, microcephaly, mild mental retardation, and growth delay. Chromosomal analysis revealed male karyotype an interstitial deletion in the long arm of chromosome 3. DNA-analysis showed that is maternal origin encompasses region between markers D3S1535 D3S1593. The contains not only FOXL2 gene, but also gene encoding ataxia-telangiectasia Rad3-related protein (ATR). Mutations have been shown to cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). ATR has identified as candidate for Seckel syndrome, autosomal recessive comprises retardation. hypothesize our patient contiguous non-BPES-associated abnormalities (microcephaly, delay) are result gene. However, it yet excluded haploinsufficiency some other this plays role.