Partial trisomy 5q: three different phenotypes depending on different duplication segments.
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Adult↗
Biomedical subjects
E O Gley
Publications and source records attributed to E O Gley.
[Prenatal diagnosis of a case of metachromatic leucodystrophy (author's transl)].
Metachromatic leucodystrophy was diagnosed from cell-free amniotic fluid (marked deficiency of arylsulphatase A) in the 20th week of pregnancy of a woman whose two previous children also had the disease. The pregnancy was immediately terminated. Subsequent amniotic cell culture also revealed a very low arylsulphatase concentration corresponding to the values found in amniotic fluid. An about four-fold increase of metachromatic material was found in the formalin-fixed brain of the aborted fetus.
Abortion, Therapeutic↗
[Prenatal diagnosis of Sandhoff's disease (GM2-gangliosidosis, type 2)].
The diagnosis of GM2-gangliosidosis type 2 (Sandhoff's disease) was made prenatally (23rd week of pregnancy) by amniocentsis. A sibling with "Tay-Sachs disease" had died shortly before. Severe deficiency of total beta-hexosaminidase was found in amniotic fluid and amnion-cell culture. After interruption of the pregnancy the enzyme defect was also found in the fetal brain tissue and the concentration of ganglioside GM2 was three times normal, confirming the diagnosis.
Amniocentesis↗