We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (p13.3-pter) and partial trisomy 21 (pter-q21) due to a 3:1 segregation with tertiary aneuploidy transmitted from a maternal reciprocal translocation 12;21. Genetic amniocentesis of a 39-year-old gravida 2, para 1 woman at
Partial trisomies of chromosome 21 in man. Two new observations due to translocations 19;21 and 4;21
โ Scribed by Rudolf A. Pfeiffer; Erika K. Kessel; Karl-Heinz Soer
- Book ID
- 119838572
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 433 KB
- Volume
- 11
- Category
- Article
- ISSN
- 0009-9163
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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
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).