Prenatal diagnosis and postnatal follow-up of an abnormal child with two de novo apparently balanced translocations.
By prenatal diagnosis two apparently unrelated reciprocal translocations involving chromosomes 6/15 and 13/14 were revealed in a fetus in whom echography demonstrated an abdominal tumor. Pregnancy continued. At birth the child had dysmorphia and hydronephrosis, for which surgery was performed. The psychomotor development was delayed. These abnormalities may be the result of the loss of a small amount of chromosomal material accompanying these translocations.
D000008:Abdominal Neoplasms / Q000235:genetics; D000293:Adolescent; D002901:Chromosomes, Human, 13-15; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D005315:Fetal Diseases / Q000235:genetics*; D006801:Humans; D006869:Hydronephrosis / Q000235:genetics; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic