Síndrome XXXY

A síndrome XXXY é uma condição genética caracterizada por uma aneuploidia do cromossomo sexual, em que os indivíduos possuem dois cromossomos X extras.[1] As pessoas, na maioria dos casos, têm dois cromossomos sexuais: um X e um Y ou dois cromossomos X. A presença de um cromossomo Y com um gene SRY em funcionamento causa a expressão de genes que determinam a masculinidade. Por isso, a síndrome XXXY afeta apenas homens biológicos, independentemente da identidade de gênero. Os dois cromossomos X adicionais em homens com a síndrome XXXY faz com que eles tenham 48 cromossomos, em vez dos 46 típicos. A síndrome XXXY é, portanto, frequentemente referida como 48,XXXY.[2][1][3] Há uma grande variedade de sintomas associados a esta síndrome, incluindo problemas cognitivos e comportamentais, taurodontismo e infertilidade.[1][3] Essa síndrome é geralmente herdada por meio de uma nova mutação em um dos gametas dos pais, pois os afetados por ela geralmente são inférteis. Estima-se que XXXY afete um em cada 50 mil nascimentos do sexo masculino.[3]

Ver também

Referências

  1. ↑ a b c Joseph, Michael (maio de 2008). «Endodontic treatment in three taurodontic teeth associated with 48,XXXY Klinefelter syndrome: a review and case report». Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology (5): 670–677. ISSN 1079-2104. doi:10.1016/j.tripleo.2007.11.015. Consultado em 16 de julho de 2021 
  2. ↑ «48,XXXY syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program». rarediseases.info.nih.gov. Consultado em 16 de julho de 2021 
  3. ↑ a b c Tartaglia, Nicole; Ayari, Natalie; Howell, Susan; D’Epagnier, Cheryl; Zeitler, Philip (2011). «48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome». Acta Paediatrica (em inglês) (6): 851–860. ISSN 1651-2227. PMC 3314712Acessível livremente. PMID 21342258. doi:10.1111/j.1651-2227.2011.02235.x. Consultado em 16 de julho de 2021 
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