Cross I, Delhanty J, Chapman P, Bowles L V, Griffin D, Wolstenholme J, Bradburn M, Brown J, Wood C, Gunn A
Division of Human Genetics, University of Newcastle upon Tyne.
J Med Genet. 1992 Mar;29(3):175-9. doi: 10.1136/jmg.29.3.175.
We report familial adenomatous polyposis coli (FAPC) with epidermoid cysts, osteomata, and areas of congenital hypertrophy of the retinal pigment epithelium (CHRPEs) in a male patient and his maternal aunt, both of whom suffered a mild to moderate degree of mental handicap. Both had an interstitial deletion of the long arm of chromosome 5 (del(5)(q22q23.2)). Two other normal family members had the underlying direct insertion of chromosome 5(dir ins(5)(q31.3q22q23.2)). Molecular genetic and fluorescent hybridisation studies have shown that loci D5S37 and D5S98 are outside the deletion whereas loci detected by probes EF5.44 and YN5.48 are lost. As expected, the molecular analyses indicate loss of one allele at the MCC and APC loci. The APC gene is located within band 5q22. Familial direct insertions should be considered as a cause of recurrent microdeletion syndromes.
我们报告了一名男性患者及其母亲的姨妈患有家族性腺瘤性息肉病（FAPC），伴有表皮样囊肿、骨瘤和视网膜色素上皮先天性肥大区域（CHRPEs），两人均有轻度至中度智力障碍。两人均存在5号染色体长臂的间质性缺失（del(5)(q22q23.2)）。另外两名正常家庭成员存在5号染色体的潜在直接插入（dir ins(5)(q31.3q22q23.2)）。分子遗传学和荧光杂交研究表明，位点D5S37和D5S98在缺失区域之外，而探针EF5.44和YN5.48检测到的位点丢失。正如预期的那样，分子分析表明MCC和APC位点的一个等位基因缺失。APC基因位于5q22带内。家族性直接插入应被视为复发性微缺失综合征的一个原因。
