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 trisomy 3q due to a de novo translocation t(X;3) (p21;q12)
β Scribed by J. W. E. OORTHUYS; R. M. SLATER; H. BARROWCLOUGH; M. J. K. DE KLEINE
- Book ID
- 119839228
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 316 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0009-9163
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π SIMILAR VOLUMES
A female is described who has a karyotype with an additional distal half of 13q in a recombinant rec(13)dup q chromosome. Since her parents have normal karyotypes, the origin of her karyotype is assumed to be a premeiotic pericentric inversion de novo with crossing-over within the inversion loop at
## Abstract We present a female infant with mild dysmorphic features and congenital heart defect: hypoplastic left heart with aortic atresia and hypoplastic aortic arch, ventricular septal defect, and a nonrestrictive atrial communication. Chromosome analysis showed an unbalanced translocation that