Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1-->q35 due to maternal ins(14;2) translocation.
We report two male sibs with minor congenital anomalies and moderate to severe developmental delay who are trisomic for the interstitial 2q32.1-->q35 segment. The partial 2q duplication derived from a maternal balanced insertion translocation, 46,XX,dir ins (14;2)(q22;q32.1q35). To the best of our knowledge, no similar case observation has been previously published.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14; D002889:Chromosomes, Human, Pair 2; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009035:Mothers; D009679:Nuclear Family; D014178:Translocation, Genetic; D014314:Trisomy