Capra V, Severino M, Rossi A, Nozza P, Doneda C, Perri K, Pavanello M, Fiorio P, Gimelli G, Tassano E, Di Battista E
U.O. Neurochirurgia, Istituto G. Gaslini, Genova, Italy.
Am J Med Genet A. 2014 Feb;164A(2):495-9. doi: 10.1002/ajmg.a.36283. Epub 2013 Dec 5.
Interstitial deletions of the long arm of chromosome 1 are rare and they are classified as proximal or intermediate. The intermediate interstitial deletions span 1q24-1q32. We describe a 6-year-old girl with multiple pituitary hormone deficiency, severe cognitive impairment, bilateral cleft lip and palate, midline facial capillary malformation, erythema of hands and feet and dysplastic cranial vessels, low anti-thrombin III activity, hemifacial overgrowth due to progressive infiltrating lipomatosis with bone overgrowth, marked vascular proliferation and erythema of hands and feet, and abnormal cranial vessels. The girl's karyotype showed an apparently de novo interstitial deletion 1q24.3q31.1, which was defined by array-CGH. The deleted region contains numerous genes, but only eight (CENPL, LHX4, LAMC1, LAMC2, PTGS2, ANGPTL1, TNN, and TNR) are good candidates to explain, at least partially, the phenotype of the proposita. We, therefore, discuss the involvement of these genes and the observed phenotype.
1号染色体长臂的间质性缺失很少见，可分为近端或中间型。中间型间质性缺失跨越1q24 - 1q32。我们描述了一名6岁女孩，患有多种垂体激素缺乏、严重认知障碍、双侧唇腭裂、中线面部毛细血管畸形、手足红斑及颅骨血管发育异常、抗凝血酶III活性降低、因进行性浸润性脂肪增多症伴骨质增生导致的半侧面部过度生长、明显的血管增生和手足红斑以及颅骨血管异常。女孩的核型显示为一个明显的新发1q24.3q31.1间质性缺失，由阵列比较基因组杂交（array-CGH）确定。缺失区域包含众多基因，但只有八个（CENPL、LHX4、LAMC1、LAMC2、PTGS2、ANGPTL1、TNN和TNR）是至少部分解释先证者表型的良好候选基因。因此，我们讨论了这些基因的参与情况以及观察到的表型。
