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Federación Mexicana de Ginecología y Obstetricia, A.C.

2018, Número 02

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Ginecol Obstet Mex 2018; 86 (02)


Síndrome de Turner mixoploide: aberración estructural del cromosoma Y y su correlación con los dermatoglifos

Jiménez-Madrid JH, Indira-Roncancio T

Idioma: Español
Referencias bibliográficas: 64
Paginas: 137-145
Archivo PDF: 366.62 Kb.


RESUMEN

Antecedentes: El análisis citogenético del síndrome de Turner suele ser una línea monosómica X. Son raros los casos reportados con más de una línea celular y aún menos con aberraciones estructurales del cromosoma Y. No es común que se incluyan análisis dermatoglíficos.
Caso clínico: Paciente de 8 años de edad, que al examen físico no evidenció ninguna característica fenotípica propia del síndrome de Turner, excepto talla baja, 1.28 cm (por debajo del percentil 3). La laparoscopia exploradora mostró al útero hipoplásico, trompas rudimentarias, cintillas ováricas hipoplásicas delgadas y anillos inguinales normales sin evidencia de hernias, no se detectó tejido testicular. El resultado de la citogenética convencional en sangre periférica fue de: 46,XY; bandeo “C” 46,XY; FISH 45,X[230]/46,XY[117]/46,X,dic.Y[64]. La dactiloscopia con aumento de verticilos coincidió con el aumento del número de crestas mayor al reportado como normal (127 ± 0.8), en quiroscopia ángulo ATD (92º), número de crestas a-b (86) y el porcentaje de t (24.3%).
Conclusión: Se discute uno de los pocos casos reportados en la bibliografía de síndrome de Turner con tres líneas celulares diferentes, resultantes de un evento no disfuncional poscigótico y estructural cromosómico, así como el análisis de la dactiloscopia y quiroscopia y los aspectos genéticos, medio ambientales y bioquímicos de los dermatoglifos, coincidentes con los del síndrome clásico.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Cummins H. The configuration of epidermal ridges in a human acephalic monster. Anat. Rec; 1923; 26:1.

  2. Moore KL, Persaud TVN. Embriología Básica. 5a, ed. México: McGraw-Hill Interamericana, 2000;1-589.

  3. Herscheld WJ. Skin furrows of the hand. Nature; 1880; 23:76.

  4. Kucken M. Model for fingerprint pattern formation. Forensic SCI INT; 2007; 171(2-3): 85-96.

  5. Okamoto K, Okasawa H, Okuda A, Sakai M, Muramatsu M, Hamada H. A novel octamer binding transcription factor is differentially expressed in mouse embryonic cells. Cell; 1990; 60:461-472.

  6. Schöler HR, Rupperts S, Suzuki N, Chowdbury K, Gruss P. New type of POU domain in germ line-specific protein. Nature; 1990; 344: 435-439.

  7. Rosner MH, Vigano MA, Osato K, Timmons PM, Pairier F. A. POU-domain transcription factor in early stem cells and germ cells of the mammalian embryo. Nature 1990; 345: 686-692.

  8. Stelnicki EJ, Harrison MR, Holmes D, Adzick NS, Kömüves LG, Clavin W et al. The human homeobox genes MSX-1, MSX-2, and MOX-1 are differentially expressed in the dermis and epidermis in fetal an adult skin. Differentiation; 1997; 62(1): 33-41.

  9. Stelnicki EJ, Kömüves LG, Kwong AO, Holmes D, Kleint P, Rosenfeld S, et al. HOX homeobox genes exibit spatial and temporal changes in expression during human skin development. J. Invest Dermatol; 1998; 110 (2): 110-115.

  10. Bokhari A, Coull BA, Holmes LB. Effect of prenatal exposure to anticonvulsant drugs and dermal ridge patterns of fingers. Teratology; 2002; 66: 19-23.

  11. Kömuves LG, Ma XK, Stelnicki E, Rosenfeld S, Oda Y, Largman C. HOXB13 homeodomain protein is cytoplasmic. Throughout fetal skin development. Dev. Dyn; 2003; 227(2): 192-202.

  12. Mitsui K, Tokusawa Y, Segawa K, Murakani M, Takahashi K, Maruyama M, et al. The homeo protein Nanog is required for maintenance of pluripotency in mouse epiblast and ES cells. Cell; 2003; 1B: 631-642.

  13. Reed T, Viken RJ, Rinehart SA. High heridability of fingertip arch patterns in twin-pairs. Am J Med Genet A; 2006; 140: 263-271.

  14. Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D. et al. Syndrome and dermatopathia pigmentosa reticularis: Two allelic ectodermal dysplasias caused by dominant mutation in KRT14. Am Hum Genet; 2006; 79: 724-730.

  15. Nousbeck J, Burger B, Fuchs-Telem D, Pavlosky M, Fenig S, Sarig O. et al. A mutation in a sking-specific isoform of SMARCAD 1 causes autosomal-dominant adermatoglifia. Am J Hum Genet; 2011; 89: 302-307.

  16. Nousbeck J, Sarig O, Magal L, Warschauer E, Burger B, Itin P et al. Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes. Brit J Derm; 2014; 171:1521-1524.

  17. Garzón-Alvarado DA, Ramírez-Martínez AM. A biochemical hypothesis on the formation of fingerprint using a Turing patterns approach. Theor Biol Med Model; 2011; 8: 24

  18. Xu H, Sun W, Zhang G, Cheng Y. Detection of epidermal growth factor receptor mutation in non-small-cell lung carcinoma using cytological and histological specimens. J BUON; 2015;20(1):142-145

  19. Cummins H. Dermatoglyphic stigmata in mongoloid imbeciles. Anat. Rec; 1939; 73:407.

  20. Uchida I, Patau K, Smith W. Dermal pattern in 18 and D1 trisomy’s. Amer. J. Hum. Genet; 1962; 14:345.

  21. Forbes AP. Finger prints and palm prints (dermatoglyphics) and palmar –flexion creases in gonadal dysgenesis, pseudohypoparathyroidism and Klinefelter syndrome. New Engl. J. Med; 1964; 270:1268.

  22. Cam FS, Gul D, Tunka Y, Fistik T. Analysis of dermatoglyphics in Turkish patients with Klinefelter´s syndrome. Hereditas; 2008; 145:163-166.

  23. Holt SB, Lindsten J. Dermatoglyphic anomalies in Tuner´s syndrome. Ann. Hum. Genet; 1964; 28:87.

  24. Hodges RB, Simon JR. Relationship between fingerprint patterns and Wilson´s disease. J. Lab. Clin Med; 1962; 60:629.

  25. Hirsch W. Finger, hand and foot prints in phenylketonuria as compared with other normal and abnormal populations. Humangenetik; 1964; 1:246.

  26. Ptacek LJ, Opitz JM, Smith DW, Gerrritsen T, weisman HA. The Cornelia de Lange syndrome. J. Pediat; 1963; 63:1000.

  27. Atasu M. Dermatoglyphic findings in dental caries: a preliminary report. J. Clin. Pediatry Dent; 1998; 22(2):147-149.

  28. Rosa A, Fañanas L, Bracha HS, Torrey EF, Van AJ. Congenital dermatoglyphic malformations and Psycosis: a twin study. Am. J. Psychiatry; 2000; 157(a): 1511-1513.

  29. Jalali F,Hajian-Tilaki KO. A comparative study of dermatoglyphic pattern in patients with myocardial infarction and control group. Acta Medica Iranica; 2002; 40:187-91

  30. Ana Tarcä ET. Dermatoglyphics in Insulin-Dependent Diabetes or Diabetes Mellitus Type 1 (T1dm). The Journal of Preventive Medicine; 2005; 13(1-2): 43-53

  31. Mathew L, Hegde AM, Rai K. Dermatoglyphic peculiarities in children with oral clefts. J Indian Soc Pedod Prev Dent; 2005; 23(4): 179-82

  32. Tikare S,Rajesh G, Prassad KW. Dermatoglyphics: A marker for maloccclusion? Int Dent J; 2010; 60(4): 300-04.

  33. Bhat PK, Badiyani BK, Aruna CN. Dermatoglyphics, A new diagnostic tool in detection of dental caries in children. Indian Journal of Forensic Medicine Toxicology; 2012; 6(2):24-28.

  34. Raizada A, Johri V, Ramnath T, Chowdhary D, Garg R. A cross-sectional study on the palmar dermatoglyphics in relation to carcinoma breast patients. J. Cli. Diag Res; 2013; 7(4): 609-612.

  35. Boggula Rama MR, Singaraju GS, Roy ET, Supraja G. A. Comparative study dermatoglyphics in individuals with normal occlusions and malocclusions. Journal of Clinical and Diagnosis Research; 2013; 7(12): 3060-3065

  36. Lederer D, Shears D, Benoit B, Verellem-Dumoilin C, Maystadt L. A three-generation X-linked family with Kabuki phenotype and a frameshift mutation in KDMGA. Am J Med Genet A 2014, 164 A(5):1289-1292

  37. Lu H, Qian W, Geng Z, Sheng Y, Yu H, Ma Z, Huo Z. Dermatoglyphs in coronary artery disease among Ningxia population of North China. J. Clin. Diagn Res. 2015 Dec; 9(12): ACOI-4. Doi: 10.7860/JCDR/2015/15765.6863. Epub 2015 Dec 1

  38. Abassi S, Rasouli M. Association between gastrointestinal cancers and finferprint patterns in the Iranian population. Genet Mol Res 2017; 16(3). Doi:10.4238/gmr 16039762

  39. Kasemi M, Fayassi- Bordbar MR, Mandabi- Shahri N. Comparative Dermatoglyphic study between Autistic patients and normal people in Iran. Iran J Med Sci, 2017; 42(4): 392-396

  40. Sun L, Sue W, Li J, Zhou Z, Han W. Palm dermatoglyphs and interleukin-4 receptor polymorphisms in asthma. Biomed Rep. 2017; 6(1): 21-26. doi: 10.3892/br. 2016.803. Epub 2016 Nov.

  41. Weaber BA, Bonday ZQ, Putkey FR, Kops GJ, Silk AD, Cleveland DW. Centromere-associated protein E is essential for the mammalian mitotic checkpoint to prevent aneuploidy due to single chromosome loss, J Cell Biol; 2003; 162(4):551-563.

  42. Gudinchuck N, Vitre B, Kim Y, Klyatkin A, Cleveland DW, Ataullakhanov FI, et al. Kinetochore kinesin CENP-E, is a processive bi-direccional tracker of dynamic microtubules tips. Nat Cell Biol; 2013; 15(9): 1079-1088.

  43. Moorhead OS, Nowell PC, Mellman WJ, Battips DM, Hungerford DA. Chromosome preparations of lynfocytes cultured from human peripheral blood. Exptl Cell, Res; 1960; 20:613-616

  44. Sumner AT. A simple technique for demonstrating centromeric heterchromain. Expl. Cell. Res; 1972; 75:304-306.

  45. Lichter P, Cremer T, Borden J, Manuelidis L, Ward DC. Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression by hybridization using recombinant DNA libraries. Hum. Genet; 1988; 80(3): 224-234.

  46. Alter M. Dermatoglyphic analisys as a diagnostic tool. Medicine; 1966; 146 (1): 1-12.

  47. Rey Vargas H. El recién nacido latinoamericano. 1ª ed. Cali: Talleres Gráficas de Impresora Feriva, 1986: 1-437.

  48. Collin JA. An introduction to turner syndrome. Paediatric Nurssing; 2006; 18(10): 38-43.

  49. Hjerril BE, Harmand K, Gravholt CH. Turner syndrome and clinical treatment. Brit Med B; 2008; 86:77- 93.

  50. Berta P, Hawkins JR, Sinclair AH. Genetic evidence equating SRY and the testes-determinating factor. Nature; 1990; 348:448-450.

  51. Teixeira J, Matheswaran S, Donahoe P. Müllerian inhibiting substance: an instructive developmental hormone with diagnostic and possible therapeutic applications. Endocr. Rev; 2001;22: 657-674

  52. Morava E, Hermann R, Czako M, Soltész G, Kosztolány G. Isodicentric Y chromosome in Ullrich-Turner patient without virilization. Am. J. Genet; 2000; 91(2): 99-101.

  53. Ravel C, Siffroid JP. Y chromosome structural abnormalities and Turner´s syndrome. Gynecol. Obstet. Fertil; 2009; 37: 933.

  54. Shaw CJ, Stankiewiez P, Chiristodoulou J, Smith E, Jones K, Lupski Jr. A girl with duplication 17p10-12 associated with a dicentric chromosome. Am. J. Genet A; 2004; 124(2): 173-178

  55. Davalillo CH. Caracterización de anomalias Cromosómicas. En diagnóstico prenatal y postnatal mediante técnicas de citogenética molecular. Tesis Doctoral; 2005; 1- 221.

  56. Klebig C, Korinth D, Meraldi P. BUB1 regulates chromosome segregation in a kinetochore-independent manner. J Cell Biol 2009;(5): 841-858.

  57. De Boer RM, Van Kessel AG, Weren RDA, Ligtenberg MJL, Smeets D, Fu Y, et al. Germline mutations in the spindle Assembly check point genes BUB1 and BUB3 are risk factors for colorectal cancer. Gastroenterology; 2013;145:544-547.

  58. Susuki A, Badger BL, Wan X, De Luca JG, Salmon ED. The architecture o CCAN proteins created a structural integrity to resist spindle forces and achieve proper intrakinetochore stretch. Dev Cell; 2014;(6):717-730.

  59. Tooley J, Stukenberg PT. The Ndc80 complex: integrating kinetochore´s many movements. Chromosome Res; 2011;19(3):377-391.

  60. Penrose LS. Finger prints, palmar and chromosomes. Nature(Lond); 1963;197:933.

  61. Bernal JE. Los dermatoglifos en Clínica Médica. Actualizaciones Médicas 1973;XV(3):190-203.

  62. Egozcue J, Antich J, Ballesta F, Goyanes V, Izquierdo L, Tamparillas M, et al. Genética Médica. 1a, ed, Barcelona: EXPAXS; 1-501.

  63. Armendares Sagrera S. Citogenética humana normal y patológica. 1a ed. Mexico: Interamericana, 1968:1-255.

  64. Biesecker LG, Spinner NB. A genome view of mosaicismo and Human disease. Nat Rev Genet 2013; 14:307-320.




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