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Metachromatic leukodystrophy:
Author(s) -
Hagen C. R. van der,
Børresen AnneLise,
Molne K.,
Oftedal G.,
Bjøro K.,
Berg K.
Publication year - 1973
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1973.tb01151.x
Subject(s) - metachromatic leukodystrophy , amniocentesis , amniotic fluid , leukodystrophy , aborted fetus , prenatal diagnosis , medicine , fetus , metachromasia , andrology , obstetrics , gynecology , physiology , pregnancy , pathology , biology , genetics , disease , staining
Amniocentesis and culturing of amniotic fluid cells were performed in the sixteenth week of two subsequent pregnancies in a woman who had previously given birth to two children with metachromatic leucodystrophy. On both occasions, amniotic fluid cells deficient in arylsulphatase A were found and the diagnosis was confirmed in the aborted fetuses.