Zobrazeno 1 - 10 of 14 pro vyhledávání: '"49 xxxxx"'
1
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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2
A case of 49,XXXXX in which the extra X chromosomes were maternal in origin
Autor: S I Choi, D S Kim, Yoo-Bok Cho, S C Cho, Hye Seung Lee
Publikováno v: Journal of Clinical Pathology. 57:1004-1006
This report describes an 11 month old female baby with features of pentasomy X. A molecular and cytogenetic evaluation revealed that her karyotype was 49,XXXXX and her extra X chromosomes were of maternal origin. She has muscular hypotonia, mental re
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4368b6e0250b7291142db5550a1cf252
https://doi.org/10.1136/jcp.2004.017475
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3
Dandy-Walker Malformation in a Fetus with Pentasomy X (49, XXXXX) Prenatally Diagnosed by Fluorescence in situ Hybridization Technique
Autor: Thomas D. Myles, Laurence I. Burd, Guillermo Font, Maureen M. McCorguodale, Donald J. McCorquodale
Publikováno v: Fetal Diagnosis and Therapy. 10:333-336
We present the case of a pentasomy X (49,XXXXX) prenatally diagnosed. The fluorescent in situ hybridization technique assisted in making the diagnosis. The problems identified in this fetus include a Dandy-Walker malformation, hydrocephaly, ventricul
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf9757a75000da3518d1b57515474c9a
https://doi.org/10.1159/000264254
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4
On the Parental Origin of the X Chromosomes in a 49,XXXXX Fetus
Autor: P. Vergani, Paola Riva, Leda Dalprà, M. G. Tibiletti, Lidia Larizza, Ludovica Volpi
Publikováno v: Journal of Maternal-Fetal and Neonatal Medicine. 3:235-238
Intrauterine growth retardation and multiple malformations ascertained by echography allowed prenatal diagnosis of penta X syndrome at the 35th week of gestation. The proband's phenotype at birth was consistent with the antenatal observations and the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7fba39dcb652abded2b9269b40af9466
https://doi.org/10.3109/14767059409017284
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5
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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6
On the parental origin of the X's in a prenatally diagnosed 49,XXXXX syndrome
Autor: F. Catizone, Bruno Dallapiccola, Angelo Notarangelo, G. Martini, G. Carillo, Rita Mingarelli
Publikováno v: Scopus-Elsevier
A 49,XXXXX fetus was detected in amniotic fluid cell cultures from a 39-year-old mother. On ultrasonography, growth retardation and bilateral radioulnar synostosis were found. Additional clinical manifestations were mild facial anomalies and hypoplas
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abf0e91c68fd5069f3d73a6a8939af08
https://pubmed.ncbi.nlm.nih.gov/8284294
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7
THE 49 XXXXX SYNDROME
Autor: M. Cirillo Silengo, Piergiorgio Franceschini, G. F. Davi
Publikováno v: Acta Paediatrica. 68:769-771
Cirillo Silengo M., Davi, G. F., and Franceschini, P. (the Clinical Genetics Center, First Paediatric Clinic, University of Turin, Turin, Italy). The 49 XXXXX syndrome. Acta Paediatr Scand, 68: 769, 1979.—A patient with 48 XXXX/49 XXXXX mosaicism i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::042367edf2b461c632c072707c215949
https://doi.org/10.1111/j.1651-2227.1979.tb18456.x
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9
The 49,XXXXX chromosome constitution: similarities to the 49,XXXXY condition
Autor: Catharina Uilenberg, Frederick R. Sergovich, J. Pozsonyi
Publikováno v: The Journal of pediatrics. 78(2)
A 16-year-old girl is described who had 49 chromosomes in leukocyte and skin cultures, up to 4 sex chromatin masses in interphase nuclei, and a penta-X chromosome constitution. The girl presented a distinctive facies which was remarkably similar to t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fccedd50f182ce7b0d405c3c9584d411
https://pubmed.ncbi.nlm.nih.gov/5539772
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10
48,XXXX-49,XXXXX mosaic: asynchronies among the late-replicating X chromosomes
Autor: Bruno Dallapiccola, Bernarda Ventimiglia, N. Ricci, M. Fraccaro, L. Tiepolo
Publikováno v: Scopus-Elsevier
A 13-year-old girl selected for chromosome investigations because of mental deficiency and multiple malformations was found to be a 48, XXXX/ 49, XXXXX mosaic. Multiple sex chromatin bodies, up to four, were found in oral mucosa smears and in culture
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76391cdb461c6e7c71ef21e294313ae4
https://pubmed.ncbi.nlm.nih.gov/5722744
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