In an effort to discover genes important for human development, we have ascertained patients with congenital anomalies and cytogenetically balanced chromosomal rearrangements. Herein, we report a four year-old girl with profound deafness, a history of feeding difficulties, dysmorphism, strabismus, developmental delay, and an apparently balanced de novo paracentric chromosome 5 inversion, inv(5)(q15q33.2). Molecular cytogenetic analysis of the inversion revealed the presence of microdeletions of approximately 400-500 kb at or near both breakpoints. The 5q15 microdeletion completely removes the nuclear receptor NR2F1 (COUP-TFI) from the inverted chromosome 5. We propose haploinsufficiency of NR2F1 to be the cause of the patient's deafness and many of the other associated anomalies based on striking similarity with the Nr2f1 null mouse. Additionally, this study further highlights the need for high resolution analysis of clinical samples with chromosomal rearrangements as associated deletions may be primarily responsible for the clinical features of these patients.

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Whether adding a new course or ending a program, curricular changes represent a formal notification from the university to the library that it must support. At American University, all curriculum changes require, as part of the approval process, a library review. While these reviews are shared with collection managers, there has never been a systematic review of the effect the changes have had on purchasing and use. One of the most prohibitive factors in undertaking such as review is that curricular changes are often difficult to map to collections because they reflect interdisciplinary adjustments or courses that push the boundary of what one might associate with a subject, such as cooking with chemistry. In this paper, we demonstrate a method of how to use Library of Congress (LOC) subclass terms to index curricular changes and how to map those LOC subclasses to our integrated library system and electronic resource holdings.