Bilateral Cleft Palate and Holotelencephaly with Multiple other Anomalies Consistent with 13 Trisomy Syndrome (An Autopsy Case)
다발성 기형을 동반한 Holotelencephaly

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Chi, Je G.; Lee, Yoon Seong
Issue Date
서울대학교 의과대학
Seoul J Med 1979;20(3):245-251
An autopsy of a still-born infant to a 26 year
old Korean woman showed all characteristic
pathological features described in 13 trisomy
syndrome. Semilobar holotelencencephaly, bilateral
cleft lip and cleft palate, microcephaly,
polydactyly, congenital heart disease, coloboma
of iris, and bicornuate uterus were present. In
addition intrasplenic pancreatic heterotopia and a
typical tetralogy of Fallot were seen in this case.
Although chromosome study failed because of
inadequate specimen from a dead born infant,
the findings seen in this case are fairly consistent
with 13 trisomy syndrome.
(Authors wish to express their thanks to Dr.
Nan Hee Kim, Dr. Kim's Obst. & Gyn. Clinic
in Seoul for bringing this case to our attention.)
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College of Medicine/School of Medicine (의과대학/대학원)Dept. of Medicine (의학과)The Seoul Journal of MedicineThe Seoul Journal of Medicine Vol. 20 No.3 (1979)
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