Enfermedades Cromosómicas

Dee SL, Clarck AT, Willat LR, Yates W JR. A case of ring chromosome 2 with growth retardation, mild dysmorphism, and microdeletion of 2p detected using FISH. J Med Genet 2001; 38: 32-7.

Gomez VL, Rivera AMM, Morales HA, Briceño GMR. Sindrome por delecion del cromosoma 12 (12p-). Reporte de un caso. Salud en Tabasco 2008; 14: 759-62.

Kosho T, Matsushima K, Sahashi T, Mitsui N, Fukushima Y, Sobakima H, et al. Ring Syndrome - Involving chromosome 2 confirmed by FISH Analysis using chromosome specific subtelomeric probes. Genetic counseling 2005; 16 (1): 65-70.

Gomez VL, Morales HA, Zagal RG y cols. Analisis cromosñmico en personas con fallas reproductivas. Salud en Tabasco 2007.

Mattina T, Milana G, D"Agata A, conti L, Sciacca F. Unstable translocation: a new case?. Clin Genet 1991; 39(2): 149-50.

Scriven PN, Flinter FA, Braude PR, Ogilvie CM. Robertsonian translocations reproductive risks and indications for preimplantation genetic diagnosis. Hum Reprod 2001; 16(11): 2267-73.

Zhang YP, Xu JZ, Yin M, Chen MF, Ren DL. Pregnancy outcomes of 194 couples with balanced translocations. Zhonghua Fu Chan Ke Za Zhi 2006; 41(9): 592-6.

Aparicio RJM, Barrientos PM, Maldonado AR y cols. Asociacion del sindrome de Wolf-Hirschhorn (deleciñn del brazo corto del cromosoma 4) con el sindrome de rubéola congénita. Bol Med Hosp Infant Mex 1997; 54 (1): 34-41.

Basgul A, Kavak ZN, Akman I, Basgul A, Gokaslan H, Elcioglu N. Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital diaphragmatic hernia, cystic hygroma and IUGR. Clin Exp Obstet Gynecol 2006; 33(2):105-6.

Battaglia A, Carey JC, Cederholm P, Viskochil DH, Arthur R. Natural History of Wolf- Hirschhorn Syndrome: Experience With 15 Cases. Deletion syndrome. Pediatrics 1999; 103: 830-36.

Briceño GMR, Rivera AMM, Morales HA. Sindrome por deleciñn del brazo corto del cromosoma 4, o sindrome de wolf-hirschhorn. La Voz del Niño 2008; 2: 7-9.

Wolf U, Reinwein H, Porsch R, Schroter R, Baitsch H. Defizienz an den kurzen armen eines chromosoms no 4. Humangenetik 1965; 1: 397-413.

Alvarez AR, Chima GMC, Madrid CV y cols. Sindrome de cri du chat: Presentaciñn de dos casos. Rev Med Hosp General de México 2003; 66(4): 212-17.

Chang CY, Lin SP, Lin HY, Chen YJ, Kao HA, Yeung CY, Hsu CH, Chi H. Cri-du- chat syndrome. Acta Paediatr Taiwan 2007; 48(6): 328-31.

Kristoffersen KE. Speech and language development in cri du chat syndrome: a critical review. Clin Linguist Phon 2008; 22(6): 443-57.

Lejeune J, Lafourcade J, Berger R, Vialatte J, Boeswillwald M, Seringe P, Turpin R. Trois cas de deletion partielle du bras court d"un chromosome 5. C.R. Acad Sci (Paris) 1963; 257: 3098-3102.

Li DZ. Prenatal diagnosis of Cri-du chat syndrome following high maternal serum human chorionic gonodotrophin and ventricular septal defect. Prenat Diagn 2009; 29(9): 914.

Moreira LM, de Carvalho AF, Borja AL, Pinto PS, Silveira A, de Freitas LM, Falcao Mde L. Mosaic cri-du-chat syndrome in a girl with a mild phenotype. J Appl Genet 2008; 49(4): 415-20.

Sigafoos J, O'Reilly MF, Lancioni GE. Cri-du-chat. Dev Neurorehabil 2009; 12(3): 119-21.

Azzi S, Rossignol S, Steunou V, Sas T, Thibaud N, Danton F, Le Jule M, Heinrichs C, Cabrol S, Gicquel C, Le Bouc Y, Netchine I. Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. Hum Mol Genet 2009 Sep 14. [Epub ahead of print] PubMed PMID: 19755383.

Beckwith JB. Extreme cytomegaly of the adrenal fetal cortex, omphalocele, hyperplasia of kidneys and pancreas and leydig-cell hyperplasia: another syndrome? Personal communication. Annual Meeting of Western Society for Pediatric Research. Los Angeles, C.ANov. 1965.

Lefebvre L, Mar L, Bogutz A, Oh-McGinnis R, Mandegar MA, Paderova J, Gertsenstein M, Squire JA, Nagy A. The interval between Ins2 andAscl2 is dispensable for imprinting centre function in the murine Beckwith-Wiedemann region. Hum Mol Genet 2009; 18(22): 4255-67.

Owen CM, Segars JH Jr. Imprinting disorders and assisted reproductive technology. Semin Reprod Med. 2009; 27(5): 417-28.

Toranzo FJM, Duarte HS, Rodriguez PA. Sindrome de Beckwith-Wiedemann. Reporte de tres casos. RevistaADM 2001; 58(5): 170-2.

Zarate YA, Mena R, Martin LJ, Steele P, Tinkle BT, Hopkin RJ. Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol. Am J Med Genet A 2009; l49A(8): 1691-7.

Zollino M, Orteschi D, Marangi G, De Crescenzo A, Pecile V, Riccio A, Neri G. A case of Beckwith-Wiedemann syndrome caused by a cryptic 1lp15 deletion encompassing the centromeric imprinted domain of the BWS locus. J Med Genet 2009 Oct 20. [Epub ahead of print] PubMed PMID: 19843502.

Gomez VL, Rivera AMM, Morales HA y cols. Sindrome por deleciñn del cromosoma 12 (l2p-). Reporte de un caso. Salud en Tabasco 2008; 14: 759-62.

Kivlin JD, Fineman RM, Williams MS, y cols. Phenotypic variation in the del(12p) Syndrome. Am J Med Genet 2005; 22: 769-79.

Klein OD, Cotter PD, SMA y cols. Interstitial deletion of chromosome l2q: Genotype- phenotype correlation of two patients utilizing array comparative genomic hybridization. Am J Med Genet 2005; 138: 349-54.

Stumm M, Klopocki E, Gaisiorek WA y cols. Molecular Cytogenetic Characterisation of an intersticial deletion 12p detected by prenatal diagnosis. Pren Diag 2007; 27: 475- 8.

Grouchy J, Lamy M, Thieffry S, Arthuis M, Salmon C. Dysmorphie complexe avec oligophrénie: délétion des bras courts d"un chromosome 17-18. C.R. Acad Sci 1963; 256: 1028-29.

Maranda B, Lemieux N, Lemyre E. Familial deletion 18p syndrome: case report. BMC Med Genet 2006; 7:60.

Kim YM, Cho EH, Kim JM, Lee MH, Park SY, Ryu HM. Del(l8p) syndrome with increased nuchal translucency in prenatal diagnosis. Prenat Diagn 2004; 24(3): 161-4.

Portnoi MF, Gruchy N, Marlin S y cols. Midline defects in deletion l8p syndrome: clinical and molecular characterization of three patients. Clin Dysmorphol 2007; 16(4): 247-52.

Stoffer SS, Koen AL, Abbasi AA, Brown S. Brief clinical report: 46,XX, del (18p) with amenorrhea, hypothyroidism, and ptosis. Am J Med Genet 1981; 9(4):285-90.

Tsukahara M, Imaizumi K, Fujita K, Tateishi H, Uchida M. Familial Del(18p) syndrome. Am J Med Genet 2001; 99(1):67-9.

Velagaleti GV, Harris S, Carpenter NJ, Coldwell J, Say B. Familial deletion of chromosome 18 (pl1.2). Ann Genet 1996; 39(4): 201-4.

Duran M, Solis V. Convergencia de los sindromes VACTER-H y prune belly. Rev Med Hosp Gen Mex. 2000; 63 (3): 196-99

Lopez J, Garcia R, Sanchez G, Pérez M. Hidrocefalia congénita asociada al Sindrome de Dandy-Walker. Rev Mex Pediatr 2000 UROTAC evidenciando hemivertebra a nivel de L4, y espina bifida a nivel de L5-S1, asi como también ri ñones en herradura

OMIM. Cromosome 18q delection sindrome. [en linea].[fecha de acceso 21 abril 2 0 0 9 ] . U R L d i s p o n i b 1 e e n : h t t p / / w w w . n c b i . n 1 m . n i h . g o v / entrez/dispomim.cgi?id=60l808

Osorio A, Rodriguez J, Pizarro O, Koller O, Paredes A, Zuñiga L. Complejo de Dandy Walker, experiencia en el Centro de Referencia Perinatal Oriente. Revista Chilena de Ultrasonografia 2006; 9 (4):113-23