Scirè G, Dallapiccola B, Iannetti P, Bonaiuto F, Galasso C, Mingarelli R, Boscherini B
Department of Pediatrics, University of Rome Tor Vergata, Italy.
Am J Med Genet. 1994 Oct 1;52(4):478-82. doi: 10.1002/ajmg.1320520415.
We report on two adolescents with 22q11 deletion. Their main clinical manifestation was chronic symptomatic hypocalcemia secondary to hypoparathyroidism, together with seizures and cerebral calcifications. Neither congenital cardiac abnormality nor T cell deficiency were detected. The phenotypic manifestations of the observed patients were consistent with velo-cardio-facial syndrome (VCFS). A microdeletion of chromosome region 22q11 has been demonstrated in approximately 90% of DiGeorge syndrome (DGS) patients and in 75% of VCFS patients; the association of the deletion with a wide spectrum of clinical findings suggests the existence of a contiguous gene syndrome. The presence of certain traits of DGS/VCFS should lead to investigations of the parathyroid function and molecular analysis of the 22q11 region hybridization studies.
我们报告了两名患有22q11缺失的青少年。他们的主要临床表现是继发于甲状旁腺功能减退的慢性症状性低钙血症，伴有癫痫发作和脑钙化。未检测到先天性心脏异常或T细胞缺陷。观察到的患者的表型表现与腭心面综合征（VCFS）一致。在大约90%的迪格奥尔格综合征（DGS）患者和75%的VCFS患者中已证实存在染色体区域22q11的微缺失；该缺失与广泛的临床发现相关联，提示存在一种相邻基因综合征。DGS/VCFS某些特征的存在应促使对甲状旁腺功能进行检查以及对22q11区域杂交研究进行分子分析。
