A Male Infant with 46,XY,4q+
1979 年 19 巻 4 号 p. 317-321
詳細
1979 年 19 巻 4 号 p. 317-321
A mentally retarded male infant with multiple malformations is described. The patient's phenotype showed some resemblance to partial 4q trisomy syndrome. The cytogenetic analysis displayed a chromosome No.4 with an excess material attached to the distal end of the long arm, while normal karyotypes were confirmed in both parents.
