[Trisomy of the distal 15q region due to familial balanced translocation t(15;16)(q24;p13) and unusual mosaicism in the mother of the proband].
Clinic-cytogenetic analysis of the patient with distal 15q trisomy is presented. Proband's mother and grandmother are carriers of the balanced translocation t (15; 16) (q24; p13). Phenotypically normal proband's mother has a second cell clone with repaired marker chromosome 15 which participates in the balanced translocation of the main cell line. It is supposed possible to repair translocated human chromosomes as a result of mitotic recombination process.
Nazarenko
S A
SA
Nazarenko
L P
LP
Baranova
V A
VA
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002884:Chromosomes, Human, Pair 15 / Q000648:ultrastructure*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009030:Mosaicism; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy
Trisomiia po distal'nomu uchastku 15q, obuslovlennaia semeĭnoĭ sbalansirovannoĭ translokatsieĭ t(15;16)(q24;p13), i neobychnyĭ mozaitsizm u materi probanda.