Nuzzo F, Stefanini M, Rocchi M, Casati A, Colognola R, Lagomarsini P, Marinoni S, Scozzari R
Istituto di Genetica Biochimica ed Evoluzionistica del C.N.R., Pavia, Italy.
Mutat Res. 1988 Jul;208(3-4):159-61. doi: 10.1016/0165-7992(88)90053-x.
Chromosome and blood marker studies were performed in the families of 4 patients in which the association of 2 rare recessive Mendelian disorders, xeroderma pigmentosum (XP-D) and trichothiodystrophy (TTD), was present. Blood genotypes did not indicate any linkage with the pathologic condition, nor any segregation anomaly. Cytogenetic analysis using high-resolution banding techniques showed a normal karyotype both in the heterozygous and in the homozygous individuals. These findings lead us to exclude a cytologically detectable chromosome rearrangement, such as a microdeletion, as a possible cause of the association of XP-D and TTD in our patients.
对4例患有两种罕见隐性孟德尔疾病（着色性干皮病（XP-D）和毛发硫营养不良（TTD））的患者家庭进行了染色体和血液标志物研究。血液基因型未显示与病理状况有任何连锁关系，也未发现任何分离异常。使用高分辨率显带技术进行的细胞遗传学分析显示，杂合子和纯合子个体的核型均正常。这些发现使我们排除了细胞遗传学上可检测到的染色体重排，如微缺失，作为我们患者中XP-D和TTD关联的可能原因。
