Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta

• Published in: Prenatal diagnosis 1999-11, Vol.19 (11), p.1061-1064
• Main Authors: Balmer, D., Baumer, A., Röthlisberger, B., Schinzel, A.
• Format: Article
• Language: English
• Subjects: Adult; Biological and medical sciences; Chromosome Aberrations - diagnosis; Chromosome Aberrations - genetics; Chromosome Disorders; Chromosomes, Human, Pair 22; confined placental mosaicism; DNA - blood; DNA - chemistry; Female; Fetal Growth Retardation - diagnosis; Fetal Growth Retardation - etiology; growth retardation; Gynecology. Andrology. Obstetrics; Humans; Karyotyping; Lymphocytes - chemistry; Management. Prenatal diagnosis; Medical sciences; Microsatellite Repeats; Mosaicism; Mothers; Phenotype; Placenta; Pregnancy; Pregnancy. Fetus. Placenta; Trisomy - diagnosis; UPD22
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/(SICI)1097-0223(199911)19:11<1061::AID-PD687>3.0.CO;2-Q

We report on a maternal uniparental disomy of chromosome 22 in a patient with severe intra‐uterine growth retardation. Karyotyping of a placental tissue revealed non‐mosaic trisomy 22, whereas lymphocyte chromosomes from the newborn were normal 46,XY. Microsatellite analysis using DNA extracted from white blood cells showed maternal uniparental heterodisomy for chromosome 22. Thus, the conceptus started as maternal trisomy due to meiotic non‐disjunction, and trisomy rescue occurred subsequently through loss of the paternal homologue resulting in maternal uniparental disomy. Normal phenotypes in previous reports have suggested that maternal UPD 22 has no impact on the phenotype. Thus, growth retardation in this patient was probably caused by dysfunction of the trisomic placenta. Copyright © 1999 John Wiley & Sons, Ltd.