Weemaes C M, Hustinx T W, Scheres J M, van Munster P J, Bakkeren J A, Taalman R D
Acta Paediatr Scand. 1981 Jul;70(4):557-64. doi: 10.1111/j.1651-2227.1981.tb05740.x.
A 10-year-old boy with microcephaly, stunted growth, mental retardation, café-au-lait spots and immunodeficiency is described. An older brother of the patient had the same clinical symptoms and a more severe immunodeficiency. Cytogenetic studies in the proband revealed a typical form of chromosome instability with multiple rearrangements of chromosomes 7 and 14. Such abnormalities were also present, though in very low frequencies, in the father and three of the phenotypically normal sibs. The similarity of the symptoms in the two sibs, the close consanguinity of their parents and the results of the cytogenetic studies in the family favour the hypothesis that the disorder is an inherited one. The clinical features and the chromosome aberrations as present in the proband are usually found in chromosomal breakage syndromes, but it was possible to exclude each of the classical chromosomal breakage syndromes on clinical and/or cytogenetic grounds.
本文描述了一名患有小头畸形、生长发育迟缓、智力障碍、咖啡斑和免疫缺陷的10岁男孩。该患者的哥哥有相同的临床症状，且免疫缺陷更为严重。对先证者的细胞遗传学研究显示出一种典型的染色体不稳定形式，伴有7号和14号染色体的多次重排。在父亲和三个表型正常的同胞中也存在此类异常，不过频率很低。两个同胞症状的相似性、其父母的近亲关系以及该家族的细胞遗传学研究结果支持该疾病为遗传性疾病这一假说。先证者所呈现的临床特征和染色体畸变通常见于染色体断裂综合征，但基于临床和/或细胞遗传学依据，可以排除每一种经典的染色体断裂综合征。
