Severe TMD/AMKL with GATA1 mutation in a stillborn fetus with Down syndrome.
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.
Heald
Brandie
B
Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OH 44195, USA.
Hilden
Joanne M
JM
Zbuk
Kevin
K
Norton
Alice
A
Vyas
Paresh
P
Theil
Karl S
KS
Eng
Charis
C
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
D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human