Giraud F, Mattei J F, Mattei M G
Ann Genet. 1977 Sep;20(3):203-8.
The authors report an observation of partial trisomy 13p13 leads to qter and suggest a clinical map of chromosome 13. Increase of fetal hemoglobin seems to be controlled by region 1 of 13q. Bands q13 q14 and q21 seem to be responsible for inner organ malformations. Lastly, the distal segment q22 leads to qter is responsible for trigonocephaly and limb abnormalities.
作者报告了13号染色体短臂13区至长臂末端的部分三体性观察结果,并提出了13号染色体的临床图谱。胎儿血红蛋白的增加似乎受13号染色体长臂1区控制。13号染色体长臂13区、14区和21区似乎与内脏畸形有关。最后,13号染色体长臂22区至长臂末端与三角头畸形和肢体异常有关。