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Prenatal analyses in a pregnancy at risk for beta-mannosidosis
W J Kleijer1, G C Geilen, O P Van Diggelen
1Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
Prenatal Diagnosis
|October 1, 1992
Prenatal analyses were performed in the pregnancy of the mother of a patient with beta-mannosidase deficiency. Partial deficiency of beta-mannosidase activity in the chorionic villi indicated a heterozygous fetus and this first-trimester diagnosis was subsequently confirmed by amniocentesis.
Prenatal analyses were performed in the pregnancy of the mother of a patient with beta-mannosidase deficiency. Partial deficiency of beta-mannosidase activity in the chorionic villi indicated a heterozygous fetus and this first-trimester diagnosis was subsequently confirmed by amniocentesis.