Artículos de revistas
Maternally Inherited Partial Monosomy 9p (pter→p24.1) And Partial Trisomy 20p (pter→p12.1) Characterized By Microarray Comparative Genomic Hybridization
Registro en:
American Journal Of Medical Genetics, Part A. , v. 155, n. 11, p. 2754 - 2761, 2011.
15524825
10.1002/ajmg.a.34168
2-s2.0-80054916619
Autor
Freitas E.L.
Gribble S.M.
Simioni M.
Vieira T.P.
Silva-Grecco R.L.
Balarin M.A.S.
Prigmore E.
Krepischi-Santos A.C.
Rosenberg C.
Szuhai K.
van Haeringen A.
Carter N.P.
Gil-da-Silva-Lopes V.L.
Institución
Resumen
We report on a 17-year-old patient with midline defects, ocular hypertelorism, neuropsychomotor development delay, neonatal macrosomy, and dental anomalies. DNA copy number investigations using a Whole Genome TilePath array consisting, of 30K BAC/PAC clones showed a 6.36Mb deletion in the 9p24.1-p24.3 region and a 14.83Mb duplication in the 20p12.1-p13 region, which derived from a maternal balanced t(9;20)(p24.1;p12.1) as shown by FISH studies. Monosomy 9p is a well-delineated chromosomal syndrome with characteristic clinical features, while chromosome 20p duplication is a rare genetic condition. Only a handful of cases of monosomy 9/trisomy 20 have been previously described. In this report, we compare the phenotype of our patient with those already reported in the literature, and discuss the role of DMRT, DOCK8, FOXD4, VLDLR, RSPO4, AVP, RASSF2, PROKR2, BMP2, MKKS, and JAG1, all genes mapping to the deleted and duplicated regions. © 2011 Wiley Periodicals, Inc. 155 11 2754 2761 Alfi, O., Donnell, G.N., Crandall, B.F., Derencsenyi, A., Menon, R., Deletion of the short arm of chromosome #9 (46,9p-): A new deletion syndrome (1973) Ann Genet, 16, pp. 17-22 Araújo, M., Sanches, M.R., Suzuki, L.A., Guerra, J.R.G., Farah, S.B., Mello, M.P., Molecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency (1996) Braz J Med Biol Res, 29, pp. 1-13 Barbaro, M., Balsamo, A., Anderlid, B.M., Myhre, A.G., Gennari, M., Nicoletti, A., Pittalis, M.C., Wedell, A., Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA (2009) Eur J Hum Genet, 17, pp. 1439-1447 Bardoni, B., Zanaria, E., Guioli, S., Floridia, G., Worley, K.C., Tonini, G., Ferrante, E., Camerino, G., A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal (1994) Nat Genet, 7, pp. 497-501 Bennett, C.P., Docherty, Z., Robb, S.A., Ramani, P., Hawkins, J.R., Grant, D., Deletion 9p and sex reversal (1993) J Med Genet, 30, pp. 518-520 Centerwall, W., Francke, U., Familial trisomy 20p five cases and two carriers in three generations a review (1977) Ann Genet, 20, pp. 77-83 Chaabouni, M., Turleau, C., Karboul, L., Jemaa, L.B., Maazoul, F., Attié-Bitach, T., Romana, S., Chaabouni, H., De novo trisomy 20p of paternal origin (2007) Am J Med Genet Part A, 143 A, pp. 1100-1103 Chen, H., An approach to work-up of dysmorphic patients: Clinical, cytogenetic, and molecular aspects (1994) Keio J Med, 43, pp. 98-107 Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (DECIPHER): Database of Genomic Variants (DGV): Ensembl C Genome Browser: European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA)Fiegler, H., Redon, R., Andrews, D., Scott, C., Andrews, R., Carder, C., Clark, R., Carter, N.P., Accurate and reliable high-throughput detection of copy number variation in the human genome (2006) Genome Res, 16, pp. 1566-1574 Funderburk, S.J., Sparkes, R.S., Sparkes, M.C., Trisomy 20p due to a paternal reciprocal translocation (1983) Ann Genet, 26, pp. 94-97 Gil-da-Silva-Lopes, V.L., (1997) Malformação Frontonasal: estudo genético-clínico de 31 pacientes não portadors de quadros sindrômicos já definidos, , Campinas: Tese de Doutorado, Universidade Estadual de Campinas Gil-da-Silva-Lopes, V.L., Maciel-Guerra, A.T., A clinical study of 31 individuals with midline facial defects with hypertelorism and a guideline for follow-up (2007) Arq Neuropsiquiatr, 65, pp. 396-401 Grammatico, P., Cupilari, F., Di Rosa, C., Falcolini, M., Del Porto, G., 20p Duplication as a result of parental translocation: Familial case report and a contribution to the clinical delineation of the syndrome (1992) Clin Genet, 41, pp. 285-289 Guion-Almeida, M.L., (2000) Hipertelorismo e defeitos de linha média facial: Estudo genético-clínico de uma amostra de pacientes, , Campinas: Tese de Doutorado, Universidade Estadual de Campinas Hauge, X., Raca, G., Cooper, S., May, K., Spiro, R., Adam, M., Martin, C.L., Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p (2008) Genet Med, 10, pp. 599-611 Hoo, J.J., Fischer, A., Fuhrmann, W., Familial tiny 9p/20p translocation: 9p24 the critical segment for monosomy 9p syndrome (1982) Ann Genet, 25, pp. 249-252 Huret, J.L., Leonard, C., Forestier, B., Rethoré, M.O., Lejeune, J., Eleven new cases of del(9p) and features from 80 cases (1988) Med J Genet, 25, pp. 741-749 Kirkpatrick, S.J., Pauli, R.M., Frontonasal malformation and deletion of 22q11 (1998) Am J Med Genet, 75, pp. 443-444 Marcus, E.S., Fuller, B., Riccardi, V.M., Triplication of chromosome arm 20p due to inherited translocation and secondary nondisjunction (1979) Am J Med Genet, 4, pp. 47-50 McDonald, M.T., Flejter, W., Sheldon, S., Putzi, M.J., Gorski, J.L., XY sex reversal and gonadal dysgenesis due to 9p24 monosomy (1997) Am J Med Genet, 73, pp. 321-326 Muroya, K., Okuyama, T., Goishi, K., Ogiso, Y., Fukuda, S., Kameyama, J., Sato, H., Ogata, T., Sex-determining gene(s) on distal 9p: Clinical and molecular studies in six cases (2000) J Clin Endocr Metab, 85, pp. 3094-3100 National Center for Biotechnology Information (NCBI): Online Mendelian Inheritance in Man (OMIM)Oppenheimer, S., Dignan, P., Soukup, S., Partial trisomy 20p: Familial occurrence (2000) Am J Med Genet, 95, pp. 316-319 Roberts, C.J., Lloyd, S., Observations on the epidemiology of simple hypospadiass (1973) Br Med J, 31, pp. 768-770 Shan, Z., Zabel, B., Trautmann, U., Hillig, U., Ottolenghi, C., Wang, Y., Haaf, T., FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates (2000) Eur J Hum Genet, 8, pp. 167-173 Sidwell, R.U., Pinson, M.P., Gibbons, B., Byatt, S.A., Svennevik, E.C., Hastings, R.J., Flynn, D.M., Pure trisomy 20p resulting from isochromosome formation and whole arm translocation (2000) J Med Genet, 37, pp. 454-458 Simioni, M., Freitas, E.L., Vieira, T.A.P., Lopes-Cendes, I., Gil-da-Silva-Lopes, V.L., Investigation of the 22q11.2 candidate region in patients with midline facial defects with hypertelorism (2010) J Appl Genet, 51, pp. 219-221 Smith, C.A., McClive, P.J., Western, P.S., Reed, K.J., Sinclair, A.H., Conservation of a sex-determining gene (1999) Nature, 402, pp. 601-602 Stevens, C.A., Qumsiyeh, M.B., Syndromal frontonasal dysostosis in a child with a complex translocation involving chromosomes 3, 7 and 11 (1995) Am J Med Genet, 55, pp. 494-497 Stratton, R.F., Payne, R.M., Frontonasal malformation with tetralogy of Fallot associated with a submicroscopic deletion of 22q11 (1997) Am J Med Genet, 69, pp. 287-289 Swinkels, M.E.M., Simons, A., Smeets, D.F., Vissers, L.E., Veltman, J.A., Pfundt, R., de Vries, B.B.A., van Ravenswaaij-Arts, C.M.A., Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype (2008) Am J Med Genet Part A, 146 A, pp. 1430-1438 Tar, A., Ion, A., Sólyom, J., Györvári, B., Stephenson, C., Barbaux, S., Nunes, M., McElreavey, K., Hypertelorism and hypospadiass associated with a de novo apparently balanced translocation between 8q22.3-23 and 20p13 (1997) Am J Med Genet, 68, pp. 231-235 Taylor, K.M., Wolfinger, H.L., Brown, M.G., Chadwick, D.L., Francke, U., Partial trisomy 20p derived from a t(18;20) translocation (1976) Hum Genet, 28, pp. 155-162 Thomas, M.A., Duncan, A.M., Bardin, C., Kaloustian, V.M., Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat (2004) Am J Med Genet Part A, pp. 292-295. , 124A Veitia, R., Nunes, M., Brauner, R., Doco-Fenzy, M., Joanny-Flinois, O., Jaubert, F., Lortat-Jacob, S., McElreavey, K., Deletions of distal 9p associated with 46,X Y male to female sex reversal: Definition of the breakpoints at 9p23.3-p24.1 (1997) Genomics, 41, pp. 271-274 Venditti, C.P., Hunt, P., Donnenfeld, A., Zackai, E., Spinner, N.B., Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies (2004) Am J Med Genet Part A, 124 A, pp. 274-279 Wilkie, A.O., Campbell, F.M., Daubeney, P., Grant, D.B., Daniels, R.J., Mullarkey, M., Affara, N.A., Huson, S.M., Complete and partial XY sex reversal associated with terminal deletion of 10q: Report of 2 cases and literature review (1993) Am J Med Genet, 46, pp. 597-600 Wu, E., Vargevik, K., Slavotinek, A.M., Subtypes of frontonasal dysplasia are useful in determining clinical prognosis (2007) Am J Med Genet Part A, 143 A, pp. 3069-3078 Zumel, R.M., Darnaude, M.T., Delicado, A., Diaz de Bustamante, A., de Torres, M.L., López Pajares, I., Trisomy 20p from maternal translocation and anencephaly. Case report and genetic review (1989) Ann Genet, 32, pp. 247-249