In a study of amniotic fluid from 91 Down's syndrome cases and 240 controls, we have shown that the median values of four biochemical markers (AFP, total hCG, free beta hCG, and unconjugated oestriol) in the amniotic fluid of pregnancies affected by Down's syndrome on the whole reflect those observe
Terminal rearrangement of chromosomes 21 detected in amniotic fluid, resulting in a trisomy 21
โ Scribed by Gerda Cohen; Anne Manuel; Margaret Cohen; Shula Endrey-Walder; W. McBride
- Publisher
- Springer
- Year
- 1983
- Tongue
- English
- Weight
- 83 KB
- Volume
- 64
- Category
- Article
- ISSN
- 0340-6717
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๐ SIMILAR VOLUMES
T w o sibs, carriers of unbalanced products of the translocation t(15;21)(915;q22.l)pat, are described. The sister had Prader-Willi syndrome due to deletion 15 (pter > q15) and partial trisomy 21 (pter > q22.1); her brother had partial trisomy 15 (pter > q15) and partial monosomy 21 (pter > q22.1).
## Abstract We describe the first case of a baby with maternal uniparental disomy of chromosome 2. Growth failure, hypothyroidism, and hyaline membrane disease were present at birth, and the first year of life was complicated by bronchopulmonary dysplasia. At age 14 months, motor and intellectual d
Tertiary trisomy, or double trisomy, is a rare occurrence. We present two individuals with a previously unreported tertiary trisomy for chromosomes 5p and 21q in an eight-generation pedigree. Their phenotypes are compared with other partial trisomies of either 5p or 21q from the literature. The prop