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
โฆ LIBER โฆ
Prenatal diagnosis of a satellited non-acrocentric chromosome derived from a maternal translocation (10;13)(p13;p12) and review of literature
โ Scribed by L. Faivre; N. Morichon-Delvallez; G. Viot; A. Larget-Piet; F. Narcy; C. Turleau; M. P. Pinson; Y. Dumez; A. Munnich; M. Vekemans
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 184 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0197-3851
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โฆ Synopsis
We identified a familial balanced translocation involving chromosomes 10 and 13 through the finding of a satellited 10p chromosome in a fetus. The phenotype of two unbalanced products of the translocation resulting in pure monosomy 10p13 and trisomy 10p13 is described. This familial case and two of our unreported cases are discussed in the light of other prenatal observations with satellited non-acrocentric chromosomes reported in the literature.
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1997
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John Wiley and Sons
๐
English
โ 99 KB
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