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The syndromal and genetic biology reported and reviewed herein can be studied, analyzed and reported by any "GP" with the required gifts, enthusiasm, drive, and ability to work with collaborators of goodwill at University centers near or far; and most importantly, to continue lifelong education and retraining. Beginning individually in rural Boulder, MT in 1947 it was possible to train in phenotype analysis with methods available to any GP, somewhat later to enlist collaborators at the Universities of Wisconsin and Washington, and finally to establish a genetic services program at a regional medical center (Shodair Children's Hospital in Helena) with fiscal support from the State Legislature amending and extending the prior Newborn Screening Act of Montana. With such financial stability it was possible to attract another physician, genetic counselors and a cytogeneticist to the Shodair Program.
View Article and Find Full Text PDFA deletion 13q34/duplication 14q32.2-14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemia.
Am J Med Genet A
April 2011
Department of Pediatrics and Pathology, ARUP Laboratories, University of Utah, Salt Lake City, Utah, USA.
During infancy, this 50-year-old man with a previously undiagnosed multiple congenital anomalies/intellectual disability (MCA/MR) syndrome had grossly symptomatic hypercalcemia and was (briefly) thought to have Williams syndrome. Results of studies with the cytogenetic methods of the 1960s and 1970s were apparently normal. He matured late, but is high-functioning and healthy.
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