title: Severe TMD/AMKL with GATA1 mutation in a stillborn fetus with Down syndrome.
abstract: BACKGROUND
  A 34-year-old woman was referred for evaluation of a recent stillborn male fetus, gestational age 27 6/7 weeks, found to have congenital myeloid leukemia at autopsy. Autopsy findings included high weight for gestational age, hepatomegaly, and extensive intravascular leukemic infiltrates in the placenta, heart, liver, thymus, lung, kidneys, and brain. Genetic consultation and examination of photographs of the fetus revealed dysmorphic features.
  
  
  METHODS
  Immunoperoxidase staining of placental tissue, fluorescence in situ hybridization of paraffin-embedded sections of the placenta using probes for t(12;21)(p13;q22), t(8;21)(q22;q22) and t/del(11q23), cytogenetic analysis of fetal tissue (tendon), sequence analysis of GATA1 in placental leukemic cells, and parental chromosome studies.
  
  
  METHODS
  Down syndrome with in utero onset of GATA1 mutation-positive severe transient myeloproliferative disorder/acute megakaryoblastic leukemia.
  
  
  RESULTS
  Genetic counseling for the recurrence risk of Down syndrome on the basis of maternal age.
authors.affiliation: Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OH 44195, USA.
authors.forename: Brandie
authors.initials: B
authors.lastname: Heald
authors.forename: Joanne M
authors.initials: JM
authors.lastname: Hilden
authors.forename: Kevin
authors.initials: K
authors.lastname: Zbuk
authors.forename: Alice
authors.initials: A
authors.lastname: Norton
authors.forename: Paresh
authors.initials: P
authors.lastname: Vyas
authors.forename: Karl S
authors.initials: KS
authors.lastname: Theil
authors.forename: Charis
authors.initials: C
authors.lastname: Eng
mesh_terms: D000328:Adult; D001344:Autopsy; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D050982:GATA1 Transcription Factor / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007947:Leukemia, Megakaryoblastic, Acute / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D009196:Myeloproliferative Disorders / Q000235:genetics*; D011247:Pregnancy; D050497:Stillbirth
chemical_list: D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human