Pfeiffer R A, Kossakiewicz M, Baisch C
J Genet Hum. 1986 Aug;34(3-4):331-7.
A pericentric inversion of the X chromosome-inv(X) (p11.3q22) is transmitted in 3 generations. Male and female carriers are normal. The proposita is tetraplegic, severely retarded and suffers from general seizures. Grand mal seizures are known in the mother and grandmother. Different proportions of inactive X chromosomes in the proposita and the normal sister are discussed. The published cases of inv(X) are reviewed.
X染色体的臂间倒位——inv(X)(p11.3q22)在三代人中传递。男性和女性携带者均正常。先证者四肢瘫痪、严重智力发育迟缓且患有全身性癫痫。已知母亲和外祖母有癫痫大发作病史。文中讨论了先证者及其正常姐妹中失活X染色体的不同比例。对已发表的inv(X)病例进行了综述。