title: A second case of intrauterine growth retardation and primary hypospadias associated with a trisomy 22 placenta but with biparental inheritance of chromosome 22 in the fetus.
abstract: We report a case of severe intrauterine growth retardation (IUGR) and hypospadias in association with trisomy 22 diagnosed following chorionic villus sampling (CVS). Subsequent analysis of amniotic fluid cultures showed a normal male karyotype, 46,XY. As a previous case had been reported with similar abnormalities, in association with maternal uniparental disomy (UPD) 22, molecular studies were also performed. Microsatellite marker studies showed biparental inheritance. Follow-up studies after delivery showed a normal cell line in lymphocytes with the trisomy appearing to be confined to the placenta. The present case concurs with other earlier reports that maternal UPD for chromosome 22 has no impact on the phenotype. The features seen in the fetus are most likely the result of placental dysfunction due to trisomy, tissue-specific mosaicism and/or the effects of local growth restriction.
authors.affiliation: Cytogenetics Division, Mater Laboratory Services, Mater Misercordiae Adult Hospital, Brisbane, Australia. 17patah@mater.org.au
authors.forename: Jennifer
authors.initials: J
authors.lastname: Bryan
authors.forename: Michelle
authors.initials: M
authors.lastname: Peters
authors.forename: Gary
authors.initials: G
authors.lastname: Pritchard
authors.forename: Sue
authors.initials: S
authors.lastname: Healey
authors.forename: Diane
authors.initials: D
authors.lastname: Payton
mesh_terms: D000328:Adult; D000649:Amniocentesis; D015193:Chorionic Villi Sampling; D002892:Chromosomes, Human, Pair 22; D020732:Cytogenetic Analysis; D004247:DNA / Q000032:analysis; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging / Q000235:genetics*; D005838:Genotype; D005865:Gestational Age; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats; D010641:Phenotype; D010920:Placenta / Q000473:pathology; D011247:Pregnancy; D014314:Trisomy; D016216:Ultrasonography, Prenatal
chemical_list: D004247:DNA