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Prenatal diagnosis by FISH in a family with Pelizaeus–Merzbacher disease caused by duplication of the PLP gene
Author(s) -
Woodward Karen,
Palmer Rodger,
Rao Kathleen,
Malcolm Sue
Publication year - 1999
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199903)19:3<266::aid-pd515>3.0.co;2-#
Subject(s) - aunt , gene duplication , proband , prenatal diagnosis , fetus , medicine , genetics , biology , pregnancy , gene , mutation , sociology , anthropology
A diagnosis of Pelizaeus–Merzbacher disease (MIM 312080) was made in a young boy. No mutation in the coding region of the proteolipid protein (PLP) gene had been found. The boy's maternal aunt came for prenatal diagnosis when 16+ weeks pregnant and carrying a male fetus. Samples were tested for duplication of the PLP gene, by interphase FISH, in lymphocyte preparations from the proband, his aunt and an amniotic fluid cell preparation from the fetus. The proband was found to carry the duplication, thus confirming the diagnosis of Pelizaeus–Merzbacher disease, but neither the aunt nor the fetus carried a duplication. Copyright © 1999 John Wiley & Sons, Ltd.