Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association.

作者: Purificación Ros-Pérez , Francisco J Regidor , Esmeralda Colino , Cristina Martínez-Payo , Eva Barroso

DOI: 10.1186/1471-2431-12-88

关键词:

摘要: The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all them diagnosed beyond the postnatal period, only one was molecularly characterized. We describe first case this unusual in neonatal clinical findings molecular studies undertaken. boy born at term with radiological features indicating diagnosis or hypochondroplasia combined prenatal karyotype (47,XXY). Neonatal FGFR3 mutation screening showed that newborn heterozygous for classic G340R mutation. Microsatellite marker analysis sex chromosome aneuploidy had arisen from a non-disjunction error paternal meiosis I, recombination event pseudoautosomal region 1 (PAR1). Specific appropriate to confirm diagnosis, prognosis, genetic counseling, especially when does not explain abnormal sonographic findings. In present case, observed PAR1 region, although recombinational events paternally derived are much rarer than expected.

参考文章(14)
K.E. Benito-Sanz, S., Thomas, N.S., Huber, C., Del Blanco, D.G., Aza-Carmona, M., Crolla, J.A., Maloney, V., Rappold, G., Argente, J., Campos-Barros, A., Cormier-Daire, V., Heath, A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri-Weill Dyschondrosteosis The American Journal of Human Genetics. ,vol. 77, pp. 533- 544 ,(2005) , 10.1086/449313
María Luisa Martínez-Frías, Cristina A. de Frutos, Eva Bermejo, M. Angela Nieto, , Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. American Journal of Medical Genetics Part A. ,vol. 152, pp. 245- 255 ,(2010) , 10.1002/AJMG.A.33188
Joan K Morris, Eva Alberman, Claire Scott, Patricia Jacobs, Is the prevalence of Klinefelter syndrome increasing European Journal of Human Genetics. ,vol. 16, pp. 163- 170 ,(2008) , 10.1038/SJ.EJHG.5201956
Xiu Lowe, Brenda Eskenazi, David O. Nelson, Sharon Kidd, Angela Alme, Andrew J. Wyrobek, Frequency of XY sperm increases with age in fathers of boys with Klinefelter syndrome. American Journal of Human Genetics. ,vol. 69, pp. 1046- 1054 ,(2001) , 10.1086/323763
A. Carrascosa Lezcano, A. Ferrández Longás, D. Yeste Fernández, J. García-Dihinx Villanova, A. Romo Montejo, A. Copil Copil, J. Almar Mendoza, S. Salcedo Abizanda, M. Gussinyé Canadell, L. Baguer Mor, Estudio transversal español de crecimiento 2008. Parte I: valores de peso y longitud en recién nacidos de 26-42 semanas de edad gestacional Anales de Pediatría. ,vol. 68, pp. 544- 551 ,(2008) , 10.1157/13123286
A Carrascosa Lezcano, JM Fernández García, C Fernández Ramos, A Ferrández Longás, JP López-Siguero, E Sánchez González, B Sobradillo Ruiz, D Yeste Fernández, Grupo Colaborador Español, None, Estudio transversal español de crecimiento 2008. Parte II: valores de talla, peso e índice de masa corporal desde el nacimiento a la talla adulta Anales de Pediatría. ,vol. 68, pp. 552- 569 ,(2008) , 10.1157/13123287
B. S. Şayh, D. Gül, H. Çakirbay, Achondroplasia with XXY karyotype Clinical Genetics. ,vol. 45, pp. 217- 218 ,(2008) , 10.1111/J.1399-0004.1994.TB04027.X
MR Almeida, AB Campos-Xavier, A Medeira, I Cordeiro, AB Sousa, M Lima, G Soares, M Rocha, J Saraiva, L Ramos, S Sousa, JP Marcelino, A Correia, HG Santos, Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal. Clinical Genetics. ,vol. 75, pp. 150- 156 ,(2009) , 10.1111/J.1399-0004.2008.01123.X
N.S. Thomas, Aberrant recombination and the origin of Klinefelter syndrome Human Reproduction Update. ,vol. 9, pp. 309- 317 ,(2003) , 10.1093/HUMUPD/DMG028
A. Juul, L. Aksglaede, A.M. Lund, M. Duno, N.E. Skakkebaek, E. Rajpert-De Meyts, Preserved fertility in a non-mosaic Klinefelter patient with a mutation in the fibroblast growth factor receptor 3 gene: Case Report Human Reproduction. ,vol. 22, pp. 1907- 1911 ,(2007) , 10.1093/HUMREP/DEM126