[Phenotypic variation in partial trisomy 4q (author's transl)]
- PMID: 1150265
- DOI: 10.1007/BF00735742
[Phenotypic variation in partial trisomy 4q (author's transl)]
Abstract
The clinical and cytogenetic data of 3 non-related patients who have a partial trisomy 4q in common are reported. The chromosome aberration originated from a parental balanced translocation in 2 cases (t(3p+;4q--)and t(4q--;18q+)); in the 3rd case an inverted insertion of 4q22 yields q34 into 4q34 occured spontaneously. A comparison of the symptoms exhibited by these probands and 7 cases from the literature gives no indication of an uniform phaenotype of this aberration.