Monosomy 11q: Report of two familial cases and review of the literature

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Abstract
We present four children from two families with the typical 11q‐ phenotype resulting from an unbalanced segregation of a parental translocation. In the first family, the father had a 46,XY,t(5;11)(q24;q23.3) constitution. The father of the three other children had a 46,XY,t(11;17)(q23;p13) translocation. Despite associated partial deletion, three of the children has a typical 11q‐phenotype. The fourth one, whose pregnancy was terminated in the second trimester, had a hypoplastic left heart but no other considered gross anomalies. A review of 36 previous cases, including 5 due to translocation (4 familial rearrangements, and 1 of unknown origin) is given with emphasis on the relationships between breakpoints and phenotype. Undescribed manifestations in our patients include agenesis of corpus callosum adactyly and malrotation of the gut.