A Study on the Etiology of Congenital Anomaly Syndromes of Unknown Cause: Cytogenetic Study with High-Resolution Banding and Origin of Abnormal Chromosomes.

对几种原因不明的先天性异常综合征进行了遗传学研究。研究结果如下：(1)对8例Arscog综合征患者、7例Beckwith-Wiedemann综合征（BWS）患者、3例de Lange综合征患者、12例Prader-Willi综合征（PWS）患者和1例Kabuki化妆患者（KMS）进行了高分辨率染色体带带研究。所有PWS患者均出现15q11-12区域缺失，1例KMS患者出现inv(Y)。(2)对我们的5个BWS家族和文献中的19个BWS家族进行了分离研究。结果分离率为0.51 0.066，性别比为1，无男性传代家族，存在3代传代家族4个。我们的结论是，这种疾病以常染色体显性遗传方式传播。(3)建立了一种基于高分辨率带和双Q-R带相结合的人类单中心染色体异型性鉴定方法。(4)对4例婴儿甘油激酶缺乏症患者进行高分辨率条带分析，所有患者均在Xp21区附近缺失。使用Xp21区域内的几个克隆dna作为探针进行Southern杂交分析。结果表明，不同患者的DNA缺失长度不同，但5例患者共有的缺失片段局限于pERT87-15位点与C7位点之间的片段。(5)以克隆dna p3-21和#34为探针，对6例BWS患者进行Southern分析。与正常对照的2个拷贝相比，所有患者都有一个这样的序列拷贝，这表明使用这些探针进行分析可以对疾病进行产前诊断。

Several congenital anomaly syndromes of unknown cause were studied genetically whether they are genetically determined. The results of the study are as follows: (1)Eight Arscog syndrome patients, 7 Beckwith-Wiedemann syndrome (BWS) patients, 3 de Lange syndrome patients, 12 Prader-Willi syndrome (PWS) patients, and one Kabuki make-up patients (KMS) were studied with high-resolution chromosome bandings. All PWS patients showed a deletion in 15q11-12 region, and one KMS patients have inv(Y). (2)Segregation study was performed on our 5 BWS families and on 19 such families from the literature. Results showed the segregation rate of 0.51 0.066, sex ratio of 1, absence of the family showing male-to-male transmission, and presense of 4 families where the disease was transmitted through 3 generations. We concluded that the disease is transmitted in an autosomal dominant mode of inheritance. (3)A further improved method for identifying heteromorphisms of human acrocentric chromosomes was developed, which is characterized by a combination of high-resolution banding and a dual Q-R banding. (4)High-resolution banding analysis was performed on 4 patients with infantile glycerol kinase deficiency, showing a deletion around the Xp21 region in all. Southern hybridization analyses were performed using several cloned DNAs within the Xp21 region as probes. The results indicate that DNA deletions were different in length with different patients, but the deleted segment common to the five patients was confined to a segment between the locus of pERT87-15 and that of C7. (5)Southern analyses were performed on 6 BWS patients with cloned DNAs p3-21 and #34 as probes. All patients have one copy of such sequences compared with 2 copies in normal controls, suggesting that analyses with these probes make a prenatal diagnosis of the diesease possible.