X-linked Dyskeratosis Congenita With Pancytopenia

Aron Gutman, Azriel Frumkin, Avinoam Adam, Nava Bloch Shtacher, Leon A. Rozenszajn

Research output: Contribution to journalArticlepeer-review


Two maternal male cousins in a Jewish Iraqi kindred were affected with dyskeratosis congenita and had a megaloblastic bone marrow. One cousin had pancytopenia and the other had thrombocytopenia. The kindred displays a deficiency of glucose-6-phosphate dehydrogenase (G6PD) and a β-thalassemia trait. The following genetic “markers” of the X chromosome were studied: G6PD, the X-linked blood groups Xg, and color vision. Linkage analysis indicated that dyskeratosis, G6PD, and Xg are far apart on the X chromosome. Chromosomal studies showed a 46XY karyotype in both cases; however, nonspecific numerical aberrations and structural abnormalities were found in the first and in the second case, polyploidy was seen in four of 60 cells. The proband's cultured fibroblasts did not show increased susceptibility to malignant transformation by simian virus 40, an oncogenic virus.

Original languageEnglish
Pages (from-to)1667-1671
Number of pages5
JournalArchives of Dermatology
Issue number11
StatePublished - Nov 1978
Externally publishedYes


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