Partial trisomy 13q identified by sequential fluorescence in situ hybridization.

We report on a 19-month-old boy with partial trisomy 13q resulting from a probable balanced translocation involving chromosomes 1 and 13. The infant presented with omphalocele, malrotation, microcephaly with overriding skull bones, micrognathia, apparently low-set ears, rocker-bottom feet, and congenital heart disease, findings suggestive of trisomy 13. Karyotypic studies from peripheral blood lymphocytes documented an unbalanced karyotype 46,XY,-1,+der(1).

Subacute necrotizing encephalopathy (Leigh syndrome): report of two juvenile cases with fatal outcome.

The clinical and pathological findings of two children diagnosed on autopsy with subacute necrotizing encephalopathy (SNE) are presented. One of the patients was a previously healthy 12-year-old boy with a rapid clinical course and fatal outcome. The second case was a mentally retarded 13-year-old girl with a positive family history of neurological disease and progressive deterioration.

The Costello syndrome.

In 1971 and again in 1977, Costello reported on two unrelated children with multiple congenital malformations associated with growth and developmental retardation and nasal papillomata (Costello, NZ Med J 74:397, 1971; Costello, Aust Paediatr J 13:114-118, 1977). Subsequently, two similar cases were described (Der Kaloustian et al., Am J Med Genet 41:69-73, 1991; Martin and Jones, Am J Med Genet 41:346-349, 1991).