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- 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.
- DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.S1.S15
- 3,723 View
- 28 Download
- 2 Crossref
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Abstract
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.
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- 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
- A Case of Wolf-Hirschhorn Syndrome with Periventricular Nodular Heterotopia Presenting with Status Epilepticus
- Partial Trisomy 13 (Patau Syndrome): An Autopsy Report.
- Kyung Chan Choi, Hyung Sik Shin, Young Euy Park, Jung Lae Seo, Sung Won Lee, Eu Sun Ro, Yong Pil Kim
- Korean J Pathol. 2002;36(5):338-340.
- 2,268 View
- 54 Download
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Abstract
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- Trisomy 13 (Patau syndrome) is rare and usually fatal if contracted within the first six months of life. We report a case of a male fetus with the typical features of Patau syndrome. He was terminated in a 27-year-old mother at the gestational age of 32+4 weeks. In chromsomal analysis by GTG banding technique, the karyotype of the fetus was 46,XY,rec(13) dup(13q)inv(13)(p13q21.3)(=partial trisomy 13q); and his mother's karyotype was 46,XX, inv(13)(p13q21.3)(=pericentric inversion). His father had normal karyotype, 46,XY. Ultrasonography showed fluid-nature content, which was occupying the entire intracranium, but preserving the brain stem and cerebellum. Postmortem examination disclosed holoprosencephaly, hydrocephalus, a single nostril, bilateral anophthalmia, ventricular septal defect, and a single umbilical artery.
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