Trisomy 5p: a second case occurring in a previously described kindred.
A second child with trisomy 5p has been born in the kindred reported by Brimble-combe et al. The cytogenetic findings were similar to those of the index case except that the derivation was paternal instead of maternal. Improved banding techniques enabled more accurate designation of the breakpoints. The clinical and necropsy findings are described. Three non-specific phenotypic malformations and one brain abnormality, possibly specific, were common to both.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002874:Chromosome Mapping; D002905:Chromosomes, Human, 4-5; D003878:Dermatoglyphics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D010375:Pedigree; D014314:Trisomy