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Sun Ju Byeon 1 Article
The Wolf-Hirschhorn Syndrome in Fetal Autopsy: A Case Report.
Sun Ju Byeon, Jae Kyung Myung, Sung Hye Park
Korean J Pathol. 2011;45:S15-S19.
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AbstractAbstract PDF
Wolf-Hirschhorn syndrome (WHS) is a malformation associated with a hemizygous deletion of the distal short arm of chromosome 4. Herein we report a fetal autopsy case of WHS. A male fetus was therapeutically aborted at 17(+0) weeks gestational age, due to complex anomaly and intrauterine growth retardation, which were found in prenatal ultrasonography. His birth weight was 65 g. Mild craniofacial dysmorphism, club feet, bilateral renal hypoplasia, edematous neck, and left diaphragmatic hernia of Bochdalek were found on gross examination. On GTG-banding, the fetus revealed 46,XY,add(4p) karyotype and the mother revealed 46,XX,t(4;18)(p16;q21.1), with normal karyotype of the father. Array comparative genomic hybridization performed on the autopsied lung tissue revealed loss of 4p16.2-->4pter and gain of 18q21.1-->18qter, suggesting 46,XY,der(4)t(4;18)(p16.2;q21.1)mat of fetal karyotype. This suggested deletion of 4p, compatible with WHS inherited from the mal-segregation of a maternal translocation t(4;18)(p16.2;21.1). Therefore, our fetus was both genotypically and phenotypically compatible with WHS.


Citations to this article as recorded by  
  • A Case of Wolf-Hirschhorn Syndrome with Periventricular Nodular Heterotopia Presenting with Status Epilepticus
    Bong Sul Suh, Keun Hyeok Ko, Kon Hee Lee, Tae-Jung Sung
    Neonatal Medicine.2015; 22(4): 233.     CrossRef
  • Rhabdoid glioblastoma is distinguishable from classical glioblastoma by cytogenetics and molecular genetics
    Sun-Ju Byeon, Hwa Jin Cho, Hae Woon Baek, Chul-Kee Park, Seung-Hong Choi, Se-Hoon Kim, Hee Kyung Kim, Sung-Hye Park
    Human Pathology.2014; 45(3): 611.     CrossRef

JPTM : Journal of Pathology and Translational Medicine