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Akademický článek

Report of a New Case With Pentasomy X and Novel Clinical Findings

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

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Report of a New Case of Pentasomy X Revealed by Status Epilepticus

Autor: Nabila Chekhlabi, Hasna Hamdaoui, Nezha Dini, Amal Haoudar

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

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Pentasomy X Syndrome in Neonate: A Rare Disorder

Autor: Neeraja Koppaka, Prashant Sanjay Jagtap, Ushang Kate, Anurita Pais, Smarajit Maiti

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’s, osseous, articular/skeletal/limb abnormali

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d626a71c593479f7765f927d68fcf319
https://doi.org/10.7860/jcdr/2021/46365.14752

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A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2

Autor: Bente Høst, Signe Thim, Anne-Bine Skytte, Sara Markholt, Jesper Graakjaer

Publikováno v: Markholt, S, Graakjaer, J, Thim, S B, Høst, B & Skytte, A-B 2017, ' A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2 ', Clinical Case Reports, vol. 5, no. 7, pp. 1136-1140 . https://doi.org/10.1002/ccr3.1004
Skytte, A-B, Markholt, S, Høst, B, Graakjær, J & Thim, S E B 2017, ' A case of penta X syndrome caused by nondisjunction inmaternal meiosis 1 and 2 ' Clinical Case Report .
Clinical Case Reports
Skytte, A-B, Markholt, S, Høst, B, Graakjær, J & Thim, S E B 2017, ' A case of penta X syndrome caused by nondisjunction inmaternal meiosis 1 and 2 ', Clinical Case Report, bind 5, nr. 5, s. 1136-1140 . https://doi.org/10.1002/ccr3.1004

Key Clinical Message The prenatal abnormalities in patients with penta X syndrome appear late in pregnancy and are nonspecific. In contrast, the postnatal phenotype is well described although new findings are still revealed. Penta X syndrome is a res

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47ea06b691c055963fc8108a3e5a2577
https://findresearcher.sdu.dk:8443/ws/files/140887026/A_case_of_penta_X_syndrome_caused_by_nondisjunction_in_maternal_meiosis_1_and_2.pdf

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A case with pentasomy x

Autor: Çolak, Fatma, Değirmenci, Banu, Saatçi, Çetin, Dündar, Munis

Pentazomi X hipotonisite, gelişme geriliği, orta dereceden ağır dereceye kadar zeka geriliği, kısa boy, kraniofasiyal anomaliler ve kas-iskelet sistemi bozuklukları ile karakterize nadir görülen bir cinsiyet kromozom anöploidi bozukluğudur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______9458::e49ebc90921e40d1d83322b69a549178
http://hdl.handle.net/11452/19287

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Pentazomi X Karyotipli Olgu Sunumu

Autor: ÇOLAK, Fatma, DEĞİRMENCİ, Banu, SAATÇİ, Çetin, DÜNDAR, Munis

Publikováno v: Volume: 40, Issue: 3 157-159
Uludağ Üniversitesi Tıp Fakültesi Dergisi

Pentasomy X is a rare sex chromosomal aneuploidy disorder characterized by hypotonia, developmental delay, moderate to severe mental retardation, short stature, craniofacial anomalies and musculoskeletal abnormalities. The craniofacial anomalies may

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=tubitakulakb::7161a6361d84d5a8ab8fb720db99f999
https://dergipark.org.tr/tr/pub/uutfd/issue/35301/391847

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Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy

Autor: Héctor N. Seuánez, Albert N. Menezes, Miguel A. M. Moreira, Juan C. Llerena, Vera Ls Moura, Lúcia de Fátima Marques de Moraes, Leila C.A. Cardoso

Publikováno v: Molecular Cytogenetics
Molecular Cytogenetics, Vol 2, Iss 1, p 20 (2009)
Repositório Institucional da FIOCRUZ (ARCA)
Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ

Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Genética Médica. Rio de Janeiro, RJ, Brasil. Instituto Nacional de Câncer. Divisão Genética. Rio de Janeiro, RJ, Brasil. / Universidade Federal do Rio de Janeiro. Departament

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::469f1776f360c3ae268cb1a15b967c01
https://pubmed.ncbi.nlm.nih.gov/19811657

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