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Mosaicism for trisomy 21: A review
American Journal of Medical Genetics Part A, 2014The clinical and cytogenetic findings associated with mosaicism for trisomy 21/Down syndrome are the focus of this review. The primary topics discussed in this overview of the extant literature include the history of this condition and its diagnosis, the incidence of mosaicism, the meiotic and/or mitotic chromosomal malsegregation events resulting in ...
Paulie, Papavassiliou +3 more
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Progressive Myopathy in Trisomy 21
Neuropediatrics, 1988A 23-year-old female patient with clinical manifestations typical of Down's syndrome progressively developed intensifying weakness of the proximal muscles from the age of 16 years. CK levels were distinctly elevated. Electromyography showed myogenic lesions and muscle biopsy a myopathic image with extensive fibre hypertrophy.
U, Mielke, K, Schimrigk, H, Edlinger
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Seizures in patients with trisomy 21
American Journal of Medical Genetics, 2005We report on the incidence of seizures in 113 patients with Down Syndrome (DS), 43 coming from the OASI Institute for Research on Mental Retardation and Brain Aging, Troina, and 70 from the outpatient clinic of the Department of Pediatrics, University of Catania.
C. ROMANO +7 more
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Blood, 2008
By studying hematopoiesis in human FLs, 2 independent studies by Tunstall-Pedoe et al and Chou and colleagues have identified important clues to explain the high incidence of megakaryocytic leukemias in infants with DS.
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By studying hematopoiesis in human FLs, 2 independent studies by Tunstall-Pedoe et al and Chou and colleagues have identified important clues to explain the high incidence of megakaryocytic leukemias in infants with DS.
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Archives of Oral Biology, 1971
Abstract The prevalence of dental caries in subjects with trisomy 21 (TR) was determined on a nationwide basis in New Zealand for subjects aged 5–24 yr. Caries prevalence was based on the examination of 416 TR subjects, and compared with that of 432 other mentally retarded (MR) and 697 normal (N) subjects.
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Abstract The prevalence of dental caries in subjects with trisomy 21 (TR) was determined on a nationwide basis in New Zealand for subjects aged 5–24 yr. Caries prevalence was based on the examination of 416 TR subjects, and compared with that of 432 other mentally retarded (MR) and 697 normal (N) subjects.
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Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18
Journal of Pediatrics, 2022Leandra Tolusso +2 more
exaly