Wolf-hirschhorn syndrome owing to 1:3 segregation of a maternal 4;21 translocation
β Scribed by Bauer, Kristine ;Howard-Peebles, Patricia N. ;Keele, Doman ;Friedman, J. M. ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1985
- Tongue
- English
- Weight
- 345 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0148-7299
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We report on an aneuploidy syndrome due to the unbalanced segregation of a familial translocation (4;21)(p16.3;q22.1) causing a partial 4p monosomy and a partial 21q trisomy. The three affected children presented with severe failure to thrive, short stature, microcephaly, profound hypotonia, and men
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