Journal article
Prenatal diagnosis of malignant osteopetrosis in Bedouin families by linkage analysis
Prenatal diagnosis, Vol.21(3), pp.183-186
2001
DOI: 10.1002/1097-0223(200103)21:3<183::AID-PD28>3.0.CO;2-M
PMID: 11260604
Abstract
Autosomal recessive malignant osteopetrosis (MOP) is a lethal disease, unless bone marrow is successfully transplanted. Yet a donor may not always be available, and even when there is one transplantation results are far from optimal. The difficulty in obtaining conclusive results by sonographic and X-ray evaluation of the fetus makes prenatal molecular diagnosis highly desirable. Subsequent to the chromosomal localization of the MOP gene in Arab-Bedouin families from the Negev region in Israel, linkage analysis was used for the prenatal diagnosis of this disease in Bedouin families at risk. Twelve cases were diagnosed, three fetuses were found to be affected, and one of the pregnancies was terminated. The other two pregnancies continued to term and the diagnosis of osteopetrosis was confirmed by X-ray immediately after birth. This is the first report on prenatal diagnosis of autosomal recessive osteopetrosis by linkage analysis.
Details
- Title: Subtitle
- Prenatal diagnosis of malignant osteopetrosis in Bedouin families by linkage analysis
- Creators
- Hanna SHALEY - Pediatric Hemato-Oncology Unit, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva, IsraelAnat MISHORI-DERY - Genetic Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva, IsraelJoseph KAPELUSHNIK - Pediatric Hemato-Oncology Unit, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva, IsraelAsher MOSER - Pediatric Hemato-Oncology Unit, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva, IsraelVal C SHEFFIELD - Genetics Department of University of Iowa, Iowa City, IA, United StatesAnn MCCLAIN - Genetics Department of University of Iowa, Iowa City, IA, United StatesRivka Carmi - Genetic Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva, Israel
- Resource Type
- Journal article
- Publication Details
- Prenatal diagnosis, Vol.21(3), pp.183-186
- Publisher
- Wiley; Chichester
- DOI
- 10.1002/1097-0223(200103)21:3<183::AID-PD28>3.0.CO;2-M
- PMID
- 11260604
- ISSN
- 0197-3851
- eISSN
- 1097-0223
- Language
- English
- Date published
- 2001
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9984065497202771
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