Search Results - "chromosomal disease"
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22q11.2 Deletion Syndrome: Symptoms, Diagnosis, Treatment
Published 2016-12-01Subjects: Get full textThe article analyzes the consequences of chromosomal abnormalities caused by the deletion of a small piece of chromosome 22. This syndrome results in diverse clinical manifestations: congenital heart defects, abnormalities in the large vessels, congenital defects in the maxillofacial area, as well a...
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Neurological manifestations of hereditary chromosomal diseases
Published 2025-07-01Subjects: “…chromosomal diseases…”The article describes three clinical cases of hereditary disorders associated with chromosomal mutations: deletions of chromosomes 14 and 18. These observations are of professional and scientific interest, since they relate to rare neurological pathology. The rarity of this anomaly, the presence of...
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Prenatal Invasive Diagnosis with Quantitative Fluorescent PCR
Published 2011-06-01Subjects: Get full textPurpose: To develop the method of prenatal invasive diagnosis and compare it abilities with traditional genetic cytological examination.Materials and Methods: There was conducted prenatal fetal invasive diagnosis of 366 pregnant women. Depending on the pregnancy age and genetic indications the chori...
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22q11.2 DELETION SYNDROME: ALGORITHM FOR THE EARLY DIAGNOSIS AND TREATMENT
Published 2017-11-01Subjects: Get full textChromosomal diseases, in particular microdeletions, determine the child's condition as well as the prognosis for a disease even at birth. With timely identified chromosomal abnormalities, we can diagnose not only obvious but also hidden disorders in the organs and their systems and timely corre...
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Drug-resistant epilepsy cases in chromosomal pathology
Published 2024-10-01Subjects: Get full textTwo cases of epilepsy in patients with a rare hereditary pathology associated with a chromosomal mutation caused deletion of chromosome 14 are presented. In the first case, this pathology was manifested in the child by generalized tonic-clonic seizures, delayed psycho-verbal development, and facial...
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