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Prenatal diagnosis of congenital sialidosis
Author(s) -
Sasagasako N.,
Miyahara S.,
Saito N.,
Shinnoh N.,
Kobayashi T.,
Goto I.
Publication year - 1993
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.1399-0004.1993.tb03833.x
Subject(s) - aborted fetus , fetus , proband , prenatal diagnosis , amniotic fluid , mucolipidosis , medicine , vacuole , pregnancy , biology , andrology , obstetrics , physiology , enzyme , cytoplasm , genetics , biochemistry , mutation , gene
Sasagasako N, Miyahara S, Saito N, Shinnoh N, Kobayashi T, Goto I. Prenatal diagnosis of congenital sialidosis. Clin Genet 1993: 44: 8–11. © Munksgaard, 1993 A case of prenatally diagnosed congenital sialidosis is described in a 21‐week‐old male fetus, which was the fifth product of non‐consanguineous parents. The proband, the second product, was diagnosed as having sialidosis by the enzyme assay in peripheral leukocytes after birth. At the 17th week of pregnancy, the fetus at risk was proven to have isolated sialidase deficiency after analyzing a sample of the cultured amniotic fluid cells. There were many cytoplasmic vacuoles and increased amounts of sialyloligosaccharides in the tissue of the aborted fetus, while the amount and the pattern of gangliosides in the central nervous system were normal.