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10.1002/ajmg.1320240303.abs We describe a new and distinct syndrome involving an interstitial deletion of the short arm of choromosome 17 in nine unrelated patients (six males; three females) ranging in age from 3 months to 65 years. In eight patients, a deletion of a portion of band 17p11.2 was...
10.1002/ajmg.1320240313.abs An educational module is described in which first‐year medical students were assigned different entries from the 1983 edition of McKusick's Mendelian Inheritance in Man to revise and update. Following review and discussion in small group sections, the entries were...
10.1002/ajmg.1320240316.abs We report on a mother and son with a similar facies characterized by a square forehead, small nose, telecanthus, and this upper lip. They both had a similar metacarpal‐phalangeal profile characterized by marked brachytelephalangy. They were both short in comparison...
10.1002/ajmg.1320240309.abs Isolated, apparently nonsyndromic cleft palate (CP) is thought to be etiologically heterogeneous. The multifactorial threshold explanation for CP is postulated in most cases. Mendelian inheritance has been documented in 3 families. We report on three unrelated white...
10.1002/ajmg.1320240304.abs Duplication of band p11.2 and a small proximal portion of band p12 of chromosome 17 was noted in an infant with unusual facial appearance and left calcaneovalgus deformity. Developmental delay was documented over time. Only one other similar case has been found in the...
10.1002/ajmg.1320240305.abs Recently, a new clinically recognizable syndrome resulting from a small interstitial deletion of 17p (del(17)(p11.2p11.2)) was described in ten unrelated patients. We have identified six additional patients with similar cytogenetic and phenotypic abnormalities....
10.1002/ajmg.1320240307.abs We describe a new type of bone dysplasia, the „acromicric dysplasia”︁, based on the study of six patients. This dysplasia is characterized clinically by mild facial anomalies, markedly shortened hands and feet, and growth retardation that is severe in most of...
10.1002/ajmg.1320240322.abs A controlled, double‐blind therapeutic trial with the drug mazindol, a growth hormone inhibitor, was performed in a pair of 7 1/2 year‐old monozygotic twins, with Duchenne muscular dystrophy (DMD). The rationable for this trial was based on a patient (reported...
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