Partial trisomy of the short arm of chromosome 8 resulting from balanced maternal translocation.
Extra chromosomal material on the long arm of chromosome 15 was found in an infant with growth retardation, dysmorphic features, skeletal abnormalities, and congenital heart defect. The phenotypically normal mother had a balanced translocation between the short arm of chromosome 8 and the long arm of chromosome 15: 46,XX,t(8:15)(p12:q25). Thus, the patient was partially trisomic for the short arm of chromosome 8 (p12 leads to pter). Comparison of the clinical data obtained from patients with partial trisomy of the short arm of chromosome 8 with those of full trisomy 8 (Warkany's syndrome) suggests that most of the clinical features of Warkany's syndrome require excess material from both the short and long arm of chromosome 8.
D002906:Chromosomes, Human, 6-12 and X; D006130:Growth Disorders / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy