[Phenotypic variation in partial trisomy 4q (author's transl)].
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.
D000015:Abnormalities, Multiple; D002900:Chromosomes, Human, 1-3; D002902:Chromosomes, Human, 16-18; D002905:Chromosomes, Human, 4-5; D005260:Female; D006257:Head / Q000002:abnormalities; D006801:Humans; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy
Uneinheitlicher Phänotype bei Partialtrisomie 4q