Mucolipidosis IV: Prenatal diagnosis by electron microscopy

Gertrude Kohn, Eliezer Sekeles, Judith Arnon, Asher Ornoy

نتاج البحث: نشر في مجلةمقالةمراجعة النظراء

7 اقتباسات (Scopus)

ملخص

Mucolipidosis IV (ML 1V) is a lysosomal storage disease presenting in infancy with cloudy cornea and psychomotor retardation. Our experience with 12 pregnancies at risk for ML IV, monitored by transmission electron microscopy (TEM) studies of cultured amniotic fluid cells, is presented. The prenatal diagnoses were confirmed in the 3 affected and the 8 un‐ affected pregnancies. In the one pregnancy where no definite diagnosis was reached the pregnancy was terminated. TEM examination of fetal tissues from this pregnancy showed no abnormal lysosomal storage bodies and a review of the cultured amniotic fluid cell sections revealed that the diagnosis of a normal fetus could have been made.

اللغة الأصليةالإنجليزيّة
الصفحات (من إلى)301-307
عدد الصفحات7
دوريةPrenatal Diagnosis
مستوى الصوت2
رقم الإصدار4
المعرِّفات الرقمية للأشياء
حالة النشرنُشِر - 1982
منشور خارجيًانعم

بصمة

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