A de novo reciprocal translocation 46,XX,t(3;7)(q21;q11), detected at amniocentesis performed because of advanced maternal age, is presented. Both parents showed a normal karyotype. The girl was delivered and has shown no phenotypic abnormality in the first year after birth. Problems encountered wit
โฆ LIBER โฆ
Prenatal diagnosis of a de novo reciprocal translocation 46,XX,t(1;18) (p22;q23)
โ Scribed by L. Bovicelli; L. F. Orsini; N. Rizzo; V. Montacuti; M. Bacchetta
- Book ID
- 119839080
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 242 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0009-9163
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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
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