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Summary Dyskeratosis congenita is a congenital multisystem disorder, characterized by skin pigmentation, dystrophic nails, and leukoplakia. Hematologic abnormalities progressing to severe pancytopenia play a significant role in the poor prognosis of afflicted patients. We report on a patient with dyskeratosis congenita and severe aplastic anemia, complicated by life threatening infection. The patient was treated with recombinant granulocyte-macrophage colony-stimulating factor. This therapy resulted in a moderate and transient improvement in absolute neutrophil counts. Current concepts regarding the pathogenesis and etiology of dyskeratosis congenita are discussed, while reviewing the available therapeutic options.

A familial study of 189 Jewish Crohn's disease patients was conducted in order to evaluate the risk for inflammatory bowel disease (IBD) in relatives of the patients and to try to understand better the genetic component in the etiology of the disease among Jews. One hundred fifty-seven patients filled out questionnaires that were verified by personal interviews. In 10 families (6.6%), a first-degree relative of the propositus was found to have IBD, seven Crohn's disease and three ulcerative colitis. Among first-degree relatives, siblings were more frequently affected: of 400, five had Crohn's disease and one ulcerative colitis. Among 304 parents, two had Crohn's disease and two ulcerative colitis, while none of the propositi's children had IBD. The prevalence of first-degree relatives with Crohn's disease was similar in the 98 and 45 families of Ashkenazi and non-Ashkenazi origin: 5.1% and 4.4%, respectively. The risk for siblings of the probands to be affected were also similar in the two groups: 1.5% and 1.8%; while parents of the probands were affected only in the group of Ashkenazi Jews.

Analysis of Ashkenazi families with Hunter patients in Israel demonstrated the complete absence of new mutations among the probands' mothers. Furthermore, in these families a significant deviation of the segregation ratio between the Hunter gene and the normal allele was demonstrated among offspring of heterozygous mothers or siblings of affected children. This may be due to pre- or postzygotic prenatal selection, favoring the X chromosome carrying the Hunter gene among Ashkenazi Jews.

Among 1,875 couples from one Muslim village, 374 (20%) marriages were between first cousins. Among women born after 1920, the highest rates of first‐cousin marriages were observed among those born between 1940–1959 (26%) and this pattern declined in the last two decades. The majority of first‐cousin marriages were between offspring of brothers. Analyzed by 20‐year periods, the pattern of first‐cousin marriages changed as the proportion of marriages between brothers' children decreased from 75% to 44%. Over the study period, more than 70% of marriages were between individuals born in the village and related to some degree. Examination of the marriages in which both spouses were born in the village demonstrated a preference to marry within the extended family; 68% of the women married a man with the same family name. Since the creation of the Israeli State, there have been significant changes among Israeli‐Arab citizens. However, these data demonstrate that the tradition of marrying a relative remains central, although some changes in marriage preference have occurred. Am. J. Hum. Biol. 14:680–682, 2002. © 2002 Wiley‐Liss, Inc.

Autosomal recessive diseases are common in the Arab population of Israel, mostly as a result of the high rate of consanguinity. They represent a major factor in the mortality and morbidity of the population. Since the distribution of genetic disorders in this population is not uniform, the present study was performed to determine the frequency and impact of recessive disorders within a single village. We demonstrate the existence of at least 19 autosomal recessive disorders in a village of about 8,600 inhabitants chosen at random. Since most of the disorders were chronic, the prevalence of recessive conditions in the village at the time of the study was at least 1/70, leading to a very high burden to the population and the health services. Am. J. Med. Genet. 92:343–345, 2000. © 2000 Wiley-Liss, Inc.

Among all the Jewish families with Hunter patients in Israel, 10 were Ashkenazi or Moroccan in origin. In those families, there was a paucity of new mutations. In addition, a significant deviation of the segregation ratio between the Hunter gene and the normal allele was demonstrated among the offspring of heterozygous mothers or siblings of affected children in these families. These results confirm and extend our previous observations suggesting selection in favor of the X chromosome carrying the Hunter allele among Ashkenazi and Moroccan Jews.

Seven cases of fetal duodenal obstruction were diagnosed during an ultrasound examination. In 5 out of the 7, Down's syndrome was later diagnosed. The finding of duodenal obstruction in a fetus is a high risk indicator for Down's syndrome. We therefore recommend prenatal cytogenetic examination to be performed in such cases.