Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report

RATIONALE: Chromosomal rearrangements are the major cause of multiple congenital abnormalities and intellectual disability. PATIENT CONCERNS AND DIAGNOSIS: We report 2 first cousins with unbalanced chromosomal aberrations of chromosomes 1 and 21, resulting from balanced familial translocation. Chrom...

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Vydáno v:Medicine (Baltimore)
Hlavní autoři: Aleksiūnienė, Beata, Matulevičiūtė, Rugilė, Matulevičienė, Aušra, Burnytė, Birutė, Krasovskaja, Natalija, Ambrozaitytė, Laima, Mikštienė, Violeta, Dirsė, Vaidas, Utkus, Algirdas, Kučinskas, Vaidutis
Médium: Artigo
Jazyk:Inglês
Vydáno: Wolters Kluwer Health 2017
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5406054/
https://ncbi.nlm.nih.gov/pubmed/28422838
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000006521
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