Partial proximal trisomy of the long arm of chromosome 5 (q13 leads to q22) resulting from maternal insertion der ins (10;5).
Five members of our study family were carriers of a balanced insertion (10;5) (q22;q13;q22). One of the children had psychomotor retardation and malformations resulting from a partial trisomy of the proximal long arm of chromosome 5, having received the maternal der(10). Amniocentesis identified another case of partial proximal trisomy in a fetus of a subsequent pregnancy. This clinical and family study is compared with two other published cases of proximal trisomy 5q.
D000015:Abnormalities, Multiple / Q000235:genetics; D000649:Amniocentesis; D002905:Chromosomes, Human, 4-5 / Q000648:ultrastructure*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D010375:Pedigree; D010641:Phenotype; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic; D014314:Trisomy