Partial trisomy in a child with features suggesting mongolism.

The child with mongolism in the home.

132 PEDIATRICS, July 1959 I MPLICIT in the diagnosis of mongolism is a pessimism and finality which only recently has been challenged.1 The pediatnician’s relationship to the infant with mongolism has often been brief-a diagnostic fait accompli, coupled with the recommen(lation for imiime(liate removal from the family. Widespread concern with all the needs of retarded children has made this att...

Partial trisomy 13 with features similar to C syndrome.

We report a case of partial trisomy 13 with trigonocephaly, upslant eyes, long smooth philtrum, polydactyly, agenesis of right kidney and mild developmental delay. In this family phenotypically normal mother had pericentric inversion of chromosome 13 and the child (proband) received recombinant 13 from the mother. Genetic counselling of the family for reproductive risks and testing siblings of ...

Sonographic Findings in Partial Type of Trisomy 18

Partial 10q trisomy with partial 12q monosomy.

A case of partial trisomy 10q with partial monosomy 12q is reported. The chromosomal abnormalities resulted from a paternal balanced, reciprocal translocation involving chromosomes 10 and 12, which, to the best of our knowledge, has not been previously described.

Two Cases of Partial Trisomy 4p and Partial Trisomy 14q

We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent gro...