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 1q and 21p trisomies in a male child due to maternal t (1; 21)
โ Scribed by Sayee Rajangam; Shavanthi Lincoln; Sridevi Hedge; I. M. Thomas
- Book ID
- 110671209
- Publisher
- Springer-Verlag
- Year
- 1999
- Tongue
- English
- Weight
- 377 KB
- Volume
- 66
- Category
- Article
- ISSN
- 0019-5456
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๐ SIMILAR VOLUMES
Extra chromosome material on the short arm of chromosome no. 6 (46,XY,6p+) was found in two mentally retarded adult half-brothers with mildly dysmorphic features. The phenotypically normal mother had a balanced translocation between the long arm of chromosome no. 1 and the short arm of chromosome no
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).