Premium
Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation
Author(s) -
Rodríguez de Alba M.,
Sanz R.,
LordaSanchez I.,
FernándezMoya J. M.,
Ayuso C.,
DíazRecasens J.,
Ramos C.
Publication year - 1999
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199909)19:9<884::aid-pd655>3.0.co;2-w
Subject(s) - chromosomal translocation , partial trisomy , monosomy , trisomy , genetics , aneuploidy , cytogenetics , karyotype , biology , medicine , chromosome , gene
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. Copyright © 1999 John Wiley & Sons, Ltd.