Zobrazeno 1 - 10
of 285
pro vyhledávání: '"Pentasomy X"'
Autor:
Aydoğan, Kübra1, Öztürk, Selcan2, Dündar, Munis3, Gümüş, Hakan2, Saatçi, Çetin3, Per, Hüseyin2 huseyinper@yahoo.com
Publikováno v:
Journal of Pediatric Academy (J. Pediatr. Acad.). 2023, Vol. 4 Issue 4, p149-151. 3p.
Autor:
De Falco, Luigia1 (AUTHOR) defalcol@centroamess.it, Suero, Teresa1,2 (AUTHOR) giovanni.savarese@centroames.it, Savarese, Giovanni1,2 (AUTHOR) pasquale.savarese82@gmail.com, Savarese, Pasquale1,2 (AUTHOR) raffaella.ruggiero@centroames.it, Ruggiero, Raffaella1,2 (AUTHOR) dicarloantonella@hotmail.it, Di Carlo, Antonella1,2 (AUTHOR) mariasolebruno@libero.it, Bruno, Mariasole1,2 (AUTHOR) nadia.petrillo@centroames.it, Petrillo, Nadia1,2 (AUTHOR) monica.ianniello@centroames.it, Ianniello, Monica1,2 (AUTHOR) centroames@libero.it, Scarpato, Ciro3 (AUTHOR) dott.ciroscarpato@gmail.com, Sarli, Camilla4,5 (AUTHOR) camilla.sarli@gmail.com, Fico, Antonio1,2 (AUTHOR)
Publikováno v:
Diagnostics (2075-4418). Jul2022, Vol. 12 Issue 7, pN.PAG-N.PAG. 10p.
Publikováno v:
The Journal of Pediatric Academy, Vol 4, Iss 4, Pp 149-151 (2023)
Pentasomy X syndrome is a very rare sex chromosome numerical anomaly of unknown frequency. The karyotype consists of 49,XXXXX. Musculoskeletal, craniofacial, cardiac, and kidney anomalies accompany psychomotor developmental delays. This report descri
Externí odkaz:
https://doaj.org/article/c18773445fdf401297b58880608f6a0c
Autor:
JAGTAP, PRASHANT SANJAY1, MAITI, SMARAJIT2, KOPPAKA, NEERAJA3, KATE, USHANG4, PAIS, ANURITA5 anurita.pais@srl.in
Publikováno v:
Journal of Clinical & Diagnostic Research. Apr2021, Vol. 15 Issue 4, p1-3. 3p.
Autor:
Demirhan Osman, Tanriverdi N, Yilmaz M.B, Kocaturk-Sel S, Inandiklioglu N, Luleyap U, Akbal E, Comertpay G, Tufan T, Dur O
Publikováno v:
Balkan Journal of Medical Genetics, Vol 18, Iss 1, Pp 85-92 (2015)
Pentasomy X is an extremely rare sex chromosome abnormality, a condition that only affects females, in which three more X chromosomes are added to the normally present two chromosomes in females. We investigated the novel clinical findings in a 1-yea
Externí odkaz:
https://doaj.org/article/69660e17b7044cf69d84714572c481a8
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 15, Iss 4, Pp GD01-GD03 (2021)
Pentasomy X is a rare syndrome with variable phenotype, that affects females with characteristic clinical features such as severe mental retardation with delayed speech, short stature, facial dimorphism, osseous, articular/skeletal/limb abnormalitie
Externí odkaz:
https://doaj.org/article/ad536c243c9b45efb9cbba59b6f40af8
Autor:
Acosta de Camargo MG; Departamento de Odontología del Niño y del Adolescente, Universidad de Carabobo. Valencia, Venezuela. macosta@uc.edu.ve Universidad de Carabobo Departamento de Odontología del Niño y del Adolescente Universidad de Carabobo Valencia Venezuela macosta@uc.edu.ve., Cancado Figueiredo M; Facultade de Odontologia da Universidade do Rio Grande do Sul. Porto Alegre, Río Grande del Sur. mcf1958@gmail.com Universidade Federal do Rio Grande do Sul Facultade de Odontologia Universidade do Rio Grande do Sul Porto Alegre, Río Grande del Sur Brazil mcf1958@gmail.com.
Publikováno v:
Revista Cientifica Odontologica (Universidad Cientifica del Sur) [Rev Cient Odontol (Lima)] 2023 Mar 26; Vol. 11 (1), pp. e147. Date of Electronic Publication: 2023 Mar 26 (Print Publication: 2023).
Autor:
Luigia De Falco, Teresa Suero, Giovanni Savarese, Pasquale Savarese, Raffaella Ruggiero, Antonella Di Carlo, Mariasole Bruno, Nadia Petrillo, Monica Ianniello, Ciro Scarpato, Camilla Sarli, Antonio Fico
Publikováno v:
Diagnostics, Vol 12, Iss 7, p 1591 (2022)
Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX) and is probably due to a nondisjunction during the meiosis. So far, only five cases prenatally diagnosed were described
Externí odkaz:
https://doaj.org/article/db635fb152ee43f09f827ddbe716a670
Autor:
Pirollo, Linda Maria Azzurra1 lindapirollo@gmail.com, Salehi, Leila Baghernajad2 leilab.salehi@ptvonline.it, Sarta, Simona1 simonci.78@inwind.it, Cassone, Marco3 marcocassone@yahoo.it, Capogna, Maria Vittoria1 maria.vittoria.cap77@alice.it, Piccione, Emilio1 piccione@med.uniroma2.it, Novelli, Giuseppe4 novelli@med.uniroma2.it, Pietropolli, Adalgisa1 pietropolli@med.uniroma2.it
Publikováno v:
Case Reports in Obstetrics & Gynecology. 1/29/2015, Vol. 2015, p1-5. 5p.
Publikováno v:
Cureus
This report describes an exceptional case of X (49, XXXXX) pentasomy in a girl aged three years and five months. She was admitted for recurrent seizures revealing epilepsy. She has growth failure and psychomotor retardation with a deformed face. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce3e59642c9aa6c3023b6f2d6f4a7a49
https://doi.org/10.7759/cureus.16062
https://doi.org/10.7759/cureus.16062