PubMed · 4157247
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K Sandhoff. 1974. Sphingolipidoses.. https://pubmed.ncbi.nlm.nih.gov/4157247/
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Nine pregnancies at risk for various metabolic disorders were monitored by prenatal diagnosis on chorionic villi obtained between the sixth and ninth weeks of pregnancy. A diagnosis of an affected fetus was made in five cases (Sandhoff, Tay-Sachs (2), Pompe's, GM1), while metachromatic leukodystrophy, GM1 (2), and Pompe's were excluded in four cases. It is concluded that chorionic villi are a reliable tissue for prenatal diagnosis of metabolic disorders also when obtained before the ninth week.
A 7 month old girl with psychomotor retardation, hypotonia, and minor malformations was found to have a terminal deletion of the long arm of chromosome 22, del(22)(q13.31). The partial deficiency of arylsulphatase A (ARSA) and the normal level of NADH diaphorase 1 (DIA1) suggests that the ARSA locus can be regionally assigned to 22q13.31----qter and the DIA1 locus can be excluded from the same segment. This report is the third published case with a terminal 22q deletion.
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