[Phenotype signs at different ages in partial trisomy 3p by familial translocation 3/5].
A family is described with a translocation 3/5 in three generations. Four patients showed the typical symptoms of partial trisomy 3p; for 2 of them a chromosome analysis was possible. Different main symptoms could be demonstrated for the different age-groups. The difficulties in analysing familial translocations and the problems in genetic counseling are discussed.
D000293:Adolescent; D000328:Adult; D002900:Chromosomes, Human, 1-3; D002905:Chromosomes, Human, 4-5; D003878:Dermatoglyphics; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy
Signes phénotypiques à différents âges d'une trisomie partielle 3p par translocation familiale 3/5.