一年多来,我们采用了末稍血、脐血、羊水细胞、绒毛细胞等染色体培养和G 带和 C 带的技术以及性染色质的检查等方法,应用于临床遗传疾病的诊断及新生儿和胎儿的健康予测。在检查的202例中发现畸形病人并染色体异常11例。分别为:一、先天性卵巢发育不全。其原因为父或母的生殖细胞在减数分裂过程中一对性染色体的不分离,含有一条性染色体 X 的精子(或卵子)与不含有性染色体的卵子(或精子) 相结合所致,故比正常女性缺少一条性染色体,而成为XO 型。主要为:身材矮小、乳房不发育、内外生殖器官幼稚型、性腺为条索样纤维组织因此闭经。有颈蹼、肘外反、桶状胸、部分病人智力低下。此综合征是1938年由 Turneis 首先描述,故称 Turner(?) 氏综合症。本文二例(门诊号分 For more than a year, we have used techniques such as end-stage blood, umbilical cord blood, amniotic fluid cells, villus cells and other chromosome culture and G-banding and C-banding techniques, as well as examination of sexual chromatin, etc., for the diagnosis of clinical genetic diseases and newborns And fetal health prediction. Of the 202 cases examined, malformations and chromosomal abnormalities were found in 11 cases. Respectively: First, congenital ovarian hypoplasia. The reason is that during the process of meiosis, the parental or reproductive cells do not separate a sex chromosome, the sperm (or egg) containing a sex chromosome X and the ovum (or sperm) containing no sex chromosome are combined, Therefore, the lack of a sex chromosome than normal women, and become XO type. Mainly: short stature, undeveloped breasts, reproductive organs inside and outside naive, gonad-like cord-like fibrous tissue so amenorrhea. There are webbed, elbow outside, barrel chest, some patients with mental retardation. This syndrome was first described by Turneis in 1938, so Turner (?) Syndrome. This article two cases (outpatient points