Opening book details…
Can I read Segregation of Digital Number with Partial Monosomy or Trisomy of 13Q in Familial 5;13 Translocation on EtoBox?
Segregation of Digital Number with Partial Monosomy or Trisomy of 13Q in Familial 5;13 Translocation by M. Rodríguez de Alba; R. Sanz; I. Lorda-Sanchez; J. M. Fernández-Moya; C. Ayuso; J. Díaz-Recasens; C. Ramos is a Medicine article available to read on EtoBox.
What is Segregation of Digital Number with Partial Monosomy or Trisomy of 13Q in Familial 5;13 Translocation about?
It has been postulated that the deletion of band 13q32 may be associated with digital malformations, especially thumb and big toe anomalies. We report a family where the mother is carrying a balanced translocation between chromosomes 5p15 and 13q22. The offspring have a specific and well-defined phenotype depending on which is the unbalanced chromosome in the karyotype. When a partial trisomy of 13q22<qter is present, the fetuses have polydactyly in the four limbs, and when the fetus is carrying a partial monosomy of this portion, an oligodactyly in all members can be observed.
Who reads Segregation of Digital Number with Partial Monosomy or Trisomy of 13Q in Familial 5;13 Translocation?
It is typically read by researchers, students, and practitioners in Medicine.
- Author
- M. Rodríguez de Alba; R. Sanz; I. Lorda-Sanchez; J. M. Fernández-Moya; C. Ayuso; J. Díaz-Recasens; C. Ramos
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley; Research Square (ISSN 0197-3851)
- Published
- 1999
- Language
- EN
- Field
- Medicine (Health Sciences)