SUMMARYThe Williams-Beuren syndrome (WBS) locus, at 7q11.23, is prone to recurrent chromosomal rearrangements, including the microdeletion that causes WBS, a multisystem condition with characteristic cardiovascular, cognitive, and behavioral features. It is hypothesized that reciprocal duplications of the WBS interval should also occur, and here we present such a case description. The most striking phenotype was a severe delay in expressive speech, in contrast to the normal articulation and fluent expressive language observed in persons with WBS. Our results suggest that specific genes at 7q11.23 are exquisitely sensitive to dosage alterations that can influence human language and visuospatial capabilities.The underlying genetic bases for the majority of cases of language impairment have been postulated to be complex, involving several loci that interact with one another and the environment to produce an overall susceptibility to disease onset. 1 Clues to the discovery of which genes potentially influence language ability may be found in mendelian disorders that have distinctive language components to their clinical phenotype. The Williams-Beuren syndrome (WBS) is one such neurodevelopmental disorder, in which persons show considerable strength in expressive language relative to their overall level of intellectual ability. 2 WBS is also associated with a recognizable facies, supravalvular aortic stenosis, hypersensitivity to sound, visual impairment, dental problems, growth deficiency, infantile hypercalcemia, musculoskeletal abnormalities, and a hoarse voice. 3 The syndrome is caused CIHR Author Manuscript CIHR Author Manuscript CIHR Author Manuscriptby the recurrent deletion of a specific set of genes, so it provides a unique opportunity to identify genes that are directly involved in language ability. 4 The chromosomal locus that is deleted in WBS (on chromosome 7, band q11.23) is prone to deletion because it is flanked by blocks of DNA that have a very high degree of similarity to one another (called low copy repeats [LCRs]). 4 The deletions, which almost invariably span a common interval, are caused by nonallelic homologous recombination within the LCRs of either the same chromosome 7 (i.e., intrachromosomal) or different chromosome 7s (i.e., interchromosomal). In each case, the chromosomes are envisaged to form loops, thereby allowing the alignment of the two LCRs, the occurrence of recombination, and the excision of the DNA contained within the intervening loop. 4 The syndrome occurs at a frequency of approximately 1 in 7500 live births, with approximately two thirds of the deletion events being interchromosomal. 5 Other microdeletion disorders -including the velocardiofacial syndrome, the Smith-Magenis syndrome, the Prader-Willi and Angelman syndromes, and hereditary neuropathy with liability to pressure palsies -are also mediated by nonallelic homologous recombination. 6 For each of these microdeletions, a reciprocal duplication disorder has also been identified: dup22q11.2, dup17p11.2, dup15q11-q13, a...

Amnion rupture sequence is considered an uncommon, sporadic condition among liveborn infants. We have examined 1,010 previable fetuses (9-20 weeks developmental age) to determine the incidence and nature of amnion rupture sequence at this stage of development. We found 18 affected fetuses (15 spontaneous and 3 induced abortions) with the incidence of 1:56. Eleven fetuses had limb constrictions and amputations only; 7 fetuses also had nonlimb involvement, including disruptions of the craniofacial region mimicking encephalocele, unusual facial clefts, and abdominal defects. In 6 pregnancies, constrictions of the umbilical cord by amniotic bands were the cause of fetal intrauterine death.

Genetic counseling is viewed as a therapeutic interrelationship between genetic counselors and their clients. In a previous relational ethics research project, various themes were identified as key components of relational ethics practice grounded in everyday health situations. In this article the relational ethics approach is further explored in the context of genetic counseling to enhance our understanding of how the counselor-client relationship is contextually developed and maintained. Qualitative interviews were conducted with six adult clients undergoing genetic counseling for predictive testing. Engagement, dialogue and presence were revealed as relevant to genetic counselor-client relationships. A relational ethics approach in genetic counseling challenges the concept of nondirectiveness and may enhance the outcome of counseling for both counselor and client.

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