Carey A H, Kelly D, Halford S, Wadey R, Wilson D, Goodship J, Burn J, Paul T, Sharkey A, Dumanski J
Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, London, England.
Am J Hum Genet. 1992 Nov;51(5):964-70.
It is well established that DiGeorge syndrome (DGS) may be associated with monosomy of 22q11-pter. More recently, DNA probes have been used to detect hemizygosity for this region in patients with no visible karyotypic abnormality. However, DGS has also been described in cases where the cytogenetic abnormality does not involve 22q11; for instance, four cases of 10p- have been reported. In this study we have prospectively analyzed patients, by using DNA markers from 22q11, to assess the frequency of 22q11 rearrangements in DGS. Twenty-one of 22 cases had demonstrable hemizygosity for 22q11. Cytogenetic analysis had identified interstitial deletion in 6 of 16 cases tested; in 6 other cases no karyotype was available. When these results are combined with those from our previous studies, 33 of 35 DGS patients had chromosome 22q11 deletions detectable by DNA probes.
众所周知，迪乔治综合征（DGS）可能与22q11-pter单体性有关。最近，DNA探针已被用于检测无可见核型异常患者该区域的半合子状态。然而，在细胞遗传学异常不涉及22q11的病例中也有DGS的描述；例如，已有4例10p-的报道。在本研究中，我们通过使用来自22q11的DNA标记物对患者进行前瞻性分析，以评估DGS中22q11重排的频率。22例患者中有21例显示22q11半合子状态。细胞遗传学分析在16例检测病例中发现6例有中间缺失；另外6例没有核型结果。当这些结果与我们之前研究的结果相结合时，35例DGS患者中有33例可通过DNA探针检测到22号染色体q11缺失。
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