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Epilepsy associated with chromosomal disorders
Epilepsy & BehaviorChromosomal disorders are multisystemic conditions frequently presenting developmental delay and epilepsy as primary neurological symptoms. Epilepsy in these syndromes significantly impacts morbidity, quality of life, and neurodevelopment. Angelman syndrome, ring chromosome 20, Down syndrome, Dup15q syndrome, and others display suggestive ...
Maria A, Montenegro +2 more
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Chromosomal Disorders: A Review
Bulletin of the American College of Nurse-Midwives, 1971Suzanne Schimpeler, Allan J. Ebbin
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Prenatal diagnosis of chromosome disorders in Tunisian population.
Annales de Genetique, 2001Habiba Chaabounia +11 more
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Prenatal detection of chromosome disorders by QF-PCR
The Lancet, 2001M. Adinolfi, J. Sherlock
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Preimplantation Diagnosis for Chromosomal Disorders
2012It is well known that chromosomal abnormalities originate predominantly from female meiosis. As demonstrated by DNA polymorphism studies performed in families with aneuploid spontaneous abortions or liveborn babies with trisomy syndromes, these abnormalities derive mainly from meiosis I [1–3].
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Chromosomal Disorders of the Unborn
Bulletin of the American College of Nurse-Midwifery, 1968openaire +3 more sources
The Prenatal Diagnosis of Chromosomal Disorders
1979Tijo and Puck (1958) and Hayflick and Moorhead (1961) demonstrated that cells could be grown with relative ease from human tissues and that the resulting cell cultures retained the diploid chromosomal phenotype of the tissue of origin. Skin fibroblasts were shown to remain diploid throughout their extended life in tissue culture.
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