American Journal of Medical and Biological Research
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American Journal of Medical and Biological Research. 2013, 1(1), 33-36
DOI: 10.12691/ajmbr-1-1-6
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Prenatal Diagnosis of Osteopathia Striata with Cranial Sclerosis in a Male Fetus with a ~330kb Deletion of Xq11.1 Involving the WTX Gene

Patrick L. Wilson1, , Ashley Davis2, Jean Ricci Goodman1, 3, Lauren Notley1, Shibo Li2, Ji-Yun Lee2, 4, Zhongxin Yu5, Klaas J. Wierenga2 and Andrew F. Wagner1

1Department of Obstetrics and Gynecology, Maternal/Fetal Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, USA

2Department of Pediatrics, Genetics Section, University of Oklahoma Health Sciences Center, Oklahoma City, USA

3Deparment of Obstetrics and Gynecology, Maternal/Fetal Medicine, Loyola University, Stritch School of Medicine, Chicago, USA

4Department of Pathology, Korea University, Seoul, Korea

5Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, USA

Pub. Date: February 16, 2013

Cite this paper:
Patrick L. Wilson, Ashley Davis, Jean Ricci Goodman, Lauren Notley, Shibo Li, Ji-Yun Lee, Zhongxin Yu, Klaas J. Wierenga and Andrew F. Wagner. Prenatal Diagnosis of Osteopathia Striata with Cranial Sclerosis in a Male Fetus with a ~330kb Deletion of Xq11.1 Involving the WTX Gene. American Journal of Medical and Biological Research. 2013; 1(1):33-36. doi: 10.12691/ajmbr-1-1-6

Abstract

Osteopathia striata with cranial sclerosis (OSCS) is a rare X-linked dominant genetic disorder resulting mutation in the WTX gene. Clinically, OSCS presents with linear striations in the metaphyseal region of the long bones and pelvis in combination with sclerosis of the cranium and face. A twenty-seven year old G5T1P3A0L2 woman with a history of peri- and neonatal infant male deaths was referred to us at 22 weeks, 6 days into her recent pregnancy. Ultrasound evaluation identified a male fetus, bilaterally enlarged lateral ventricles, a cloverleaf skull, suspected bilateral cleft lip, nuchal thickening, bilateral bowed radii and ulnae, gastroschisis with herniated viscera, bilateral absent fibula and clubfeet. The results of prenatal testing identified a male fetus with a 330kb Xq11.1 deletion involving the entire WTX gene. Initial microarray analysis of maternal blood identified a normal female karyotype, 46,XX. FISH analysis with a BAC clone mapped to the WTX gene identified low-level mosaicism in blood and buccal samples, 17% and 15%, respectively, which explained the negative maternal microarray result.

Keywords:
Osteopathia striata with cranial sclerosis (OSCS) Wilms tumor on the X-chromosome (WTX) gene Microarray Mosaic Osteopetrosis Germline mosaicism

Creative CommonsThis work is licensed under a Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

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