title: A rare case of a mosaic unbalanced translocation after chorionic villous sampling.
abstract: BACKGROUND
  Most of the literature suggests that unbalanced chromosomal translocations may lead to poor obstetrical outcomes. We present a case of an unbalanced translocation resulting in trisomy 1q and partial monosomy 20p identified on chorionic villous sampling (CVS).
  
  
  METHODS
  Case report with expert-derived clinical management and guidance.
  
  
  RESULTS
  After the abnormal CVS result, a subsequent amniocentesis revealed a normal 46,XX fetal karyotype. Detailed second trimester ultrasound of the fetus revealed no gross structural abnormalities. The CVS karyotype results were attributed to confined placental mosaicism (CPM) of the unbalanced translocation. The infant is 18 months old and has normal phenotype and karyotype.
  
  
  CONCLUSIONS
  We recommend that if CPM with an unbalanced translocation is diagnosed on CVS, parental karyotype and an amniocentesis should be offered in conjunction with genetic counseling. In rare instances, such as this one, an unbalanced translocation may have a favorable outcome.
authors.affiliation: Department of OB/GYN, PGY-3, Wayne State University.
authors.forename: Roohi
authors.initials: R
authors.lastname: Jeelani
authors.forename: Anushka
authors.initials: A
authors.lastname: Chelliah
authors.forename: Kristen
authors.initials: K
authors.lastname: Rauch
authors.forename: Eleazar
authors.initials: E
authors.lastname: Soto
authors.forename: Saleh
authors.initials: S
authors.lastname: Ebrahim
authors.forename: Ray
authors.initials: R
authors.lastname: Bahado-Singh
authors.forename: Theodore
authors.initials: T
authors.lastname: Jones
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002824:Chorionic Villi; D015193:Chorionic Villi Sampling; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D010920:Placenta; D011247:Pregnancy; D014178:Translocation, Genetic
keywords: chorionic villous sampling; confined placental mosaicism; trisomy 1; unbalanced translocation