Monosomy 10qter due to a balanced maternal translocation: t(10;8)(q23;p23).
A new case of partial monosomy 10q is described. The clinical symptoms are similar to the previous cases reported, although the segment lost is larger (q23-qter). The mother was a balanced carrier of 46,XX,t(10;8)(q23;p23). Amniocentesis was carried out since the mother was again pregnant and the result was a female fetus 46,XX,t(10;8)(q23;p23).
D000015:Abnormalities, Multiple / Q000235:genetics; D000782:Aneuploidy; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D009123:Muscle Hypotonia / Q000235:genetics; D014178:Translocation, Genetic