[Partial trisomy of chromosome 15 with new phenotypic manifestations].
A patient with a 15 partial trisomy and a 4 target chromosome in 100% of metaphases is presented. Phenotypic manifestations not previously described were observed such as macrocephally, long face, low implantation of ears, narrow forehead, epicanthal fold, copious eyebrows and synophrys, short nasolabial distance, convergent strabismus, delayed bucal eruption, long neck, hypertrophy of thenar and hypothenar bulging and articular hypermobility. The eyeground was degeneratively myopic. This case makes more extensive the variety of clinical manifestations of this disease.
Mar González
J
J
Hogar de impedidos físicos y mentales de Holguin, Cuba.
Llaurado Robles
R A
RA
Cabrera Rivas
T
T
Lantigua Cruz
A
A
Rodríguez Verdecia
B
B
D002648:Child; D002884:Chromosomes, Human, Pair 15; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006801:Humans; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy
Trisomía parcial del cromosoma 15 con nuevas manifestaciones fenotípicas.