Fried K, Micle S, Goldberg M D
Teratology. 1984 Apr;29(2):177-80. doi: 10.1002/tera.1420290205.
A pair of monozygotic female twins with true primary microcephaly is described. The autosomal-recessive nature of the disease is supported by the following: the twins are concordant for the disease; the parents, themselves normal, are related; the reduced skull dimensions were noted at birth; neurologic problems are absent; the karyotype is normal; the gestation and delivery were normal, without any history of influences capable of inducing microcephaly. A detailed dermatoglyphic study is given.
本文描述了一对患有真性原发性小头畸形的单卵双胞胎女性。以下几点支持该疾病的常染色体隐性遗传性质:双胞胎患该病情况一致;父母自身正常,但有亲属关系;出生时即发现颅骨尺寸减小;无神经学问题;染色体核型正常;妊娠和分娩正常,无任何可诱发小头畸形的影响因素史。文中还给出了详细的皮纹学研究。