title: Prenatal diagnosis of supernumerary chromosome derivative (22) due to maternal balanced translocation in association with diaphragmatic hernia: a case report.
abstract: An aneuploid fetus was detected prenatally by cordocentesis at 27 weeks' gestation following ultrasonographic diagnosis of severe fetal growth retardation and a large diaphragmatic hernia. The fetal karyotype was revealed to be 47,XX,der(22)t(11;22)(q23.3;q11.2) after parental bloods confirmed a balanced reciprocal translocation in the mother. Approximately 85 cases with an unbalanced karyotype 47,XX(or XY),+der(22),t(11;22) due to 3:1 meiotic disjunction in the parental translocation carrier have been reported in the world literature and only one of them was diagnosed prenatally. This is the first detailed case report of a supernumerary derivative (22) chromosome abnormality diagnosed prenatally in association with diaphragmatic hernia.
authors.affiliation: University Department of Obstetrics and Gynaecology, Royal Free Hospital, Hampstead, London, UK.
authors.forename: R A
authors.initials: RA
authors.lastname: Kadir
authors.forename: R
authors.initials: R
authors.lastname: Hastings
authors.forename: D L
authors.initials: DL
authors.lastname: Economides
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D002880:Chromosomes, Human, Pair 11; D002892:Chromosomes, Human, Pair 22; D017218:Cordocentesis; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging; D006548:Hernia, Diaphragmatic / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D009035:Mothers; D011247:Pregnancy; D014178:Translocation, Genetic; D016216:Ultrasonography, Prenatal