The purpose of this study was to determine the level of beta-thalassemia awareness among Italians living on the eastern side of Sicily (Bronte, Catania, and Tortorici, Messina), Italian-Americans, and Americans of other ethnic backgrounds (Other-Americans). A questionnaire was developed which asked respondents knowledge questions about both beta-thalassemia and Down Syndrome. Five hundred questionnaires were distributed, and 456 were ultimately returned and analyzed (150 Italians, 156 Italian-Americans, 150 Other-Americans). Italians answered an average of 55% of the beta-thalassemia correctly compared to scores of 17 and 24% for the Italian-Americans and Other-Americans, respectively. The groups did not differ in their knowledge of Down Syndrome (all answered between 58 and 60% of the questions correctly on average). Over 80% of the Italian respondents had heard of beta-thalassemia compared to only 19% of the Italian-Americans. beta-Thalassemia education programs in Italy appear to have dramatically increased awareness of the disorder. Similar programs need to be developed for at-risk populations in the United States.

Here we report on 4 unrelated patients with reciprocal translocations which resulted in duplication of the distal portion of chromosome 1q. Although the patients had certain non-specific malformations in common, our investigation and a review of the literature do not suggest the existence of a distinct phenotype due to this chromosome abnormality. We think that the coexisting deletion present in each of these patients is responsible for most of the observed differences in clinical manifestations. The variable phenotype makes clinical recognition difficult and precludes making a long-term prognosis.

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We report on a newborn girl with holoprosencephaly, microcephaly, absent right radius, and other anomalies with an 46,XX,i(18q) chromosome constitution. This is the first report of an i(18q) in syndromal alobar holoprosencephaly.

The uses of systemically-based psychotherapeutic methods in genetic counseling are discussed in the context of the origin of genetic counseling, the definition of genetic counseling, and the adjustments that one must make in order to implement these methods. Selected systemic methods which can be readily incorporated into genetic counseling are presented: use of genograms to explore family attitudes and beliefs about genetic risk, communications skills, and applications of family of origin work in genetic counseling. The need for research regarding the methodology and process of genetic counseling is presented with discussion of the need for theories of practice for genetic counseling.

We report a boy and his maternal uncle who have Thrombocytopenia-Absent Radius (TAR) syndrome. The mother of the propositus is normal. A maternal aunt has mild radial hypoplasia, possibly representing partial expression of the syndrome. A review of the literature shows several pedigrees in which relatives other than sibs were affected with TAR. Thus, autosomal recessive inheritance may not account for all cases and alternate modes of transmission should be considered.

Recurrence of de novo GqGq Down syndrome (DS) in nine reported families and the low frequency of this chromosome abnormality in the population prompted this multicenter study to examine recurrence rate. Pedigrees and cytogenetic findings were analyzed from 112 families ascertained by a DS child with de novo GqGq translocation. Four of 112 sets of parents had abnormal cytogenetic findings. One mother and two fathers had a low proportion of mosaicism for trisomy 21 in peripheral lymphocytes. In one of these fathers, fibroblast studies confirmed the mosaicism (others not similarly studied). Two of these three families have one additional child each, both being normal. In the fourth family, the mother is heterozygous for a pericentric inversion of chromosome 21. Ninety of the 112 probands had a total of 130 full sibs and 34 half sibs. None of these 164 sibs was affected; the recurrence rate could still be as high as 2% (with 95% confidence based upon calculation of a one-tailed confidence interval). Because of the latter, the nine reports of recurrence in the literature, and the abnormal cytogenetic findings in peripheral lymphocytes in 4/112 sets of parents (3.6%), we think that caution should be exercised when counseling that the recurrence risk of this event is remote.

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