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10.1002/ajmg.1320350323.abs Acquired monosomy 7 is a frequent finding in myelodysplastic syndromes, including acute myelogenous leukemia. A subset of these patients has been described with an apparently distinct condition: myelodysplasia and leukemia syndrome with monosomy 7 (MLSM7). We report 2...
10.1002/ajmg.1320350310.abs Cerebellar anomalies are consistent findings in patients with the oral–facial–digital syndrome type VI (Váradi syndrome) in addition to variable facial and oral changes, and polysyndactyly of hands and feet. We report 3 unrelated patients with this entity who have...
10.1002/ajmg.1320350309.abs Segregation distortion was observed in inheritance of progressive rod–cone degeneration (prcd) in a colony of Miniature Poodle dogs. Breeding results, from both retrospective records and prospectively planned matings, were classified into five mating types: (1)...
10.1002/ajmg.1320350315.abs We report on 2 unrelated boys with similar physical and radiographic findings that may represent a “new” skeletal dysplasia. Findings in common include early speech delay, short stature, frontal bossing with a depression over the metopic suture, a narrow nasal root...
10.1002/ajmg.1320350314.abs We report on a 5‐year‐old girl with a progeroid disorder and compare her to a previously reported woman now in her forties, whom she resembles to a striking degree. Common manifestations include pre‐ and post‐natal growth retardation, markedly diminished...
10.1002/ajmg.1320350322.abs We report on a patient with Wiedemann‐Beckwith syndrome (WBS) who developed abdominal neuroblastoma. Although WBS patients are known to have a higher incidence of embryonal tumors, this is only the 4th known case of neuroblastoma associated with this syndrome....
10.1002/ajmg.1320350307.abs It has recently been shown that apparently similar deletions of chromosome 15q occur commonly in the Prader‐Willi and Angelman syndromes. The distinctness of the syndromes suggests that the deletions are not identical. To address this possibility, the specific bands...
10.1002/ajmg.1320350316.abs Neural tube defects (NTD) may be separated according to the overall location and probable embryological origin into 2 groups: upper or neurulation defects, and lower or canalization defects. Evidence as to whether these 2 forms are causally related or distinct was...
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