Información del artículo
Las anomalías cromosómicas están presentes en un 0,7–0,8 % de los recién nacidos vivos. La repercusión fenotípica de las cromosomopatías es muy diversa. Pueden estar presentes también en individuos fenotípicamente normales, pero con riesgo elevado de abortos de repetición y de descendencia afectada por defectos congénitos y/o retraso mental. Es importante conocer la repercusión de las diferentes anomalías cromosómicas con el fin de proporcionar un asesoramiento correcto a los pacientes.
Palabras clave:
Cariotipo
Cromosoma
Citogenética
Fenotipo
The incidence of chromosome anomalies in newborn infants is 0.7–0.8 %. The phenotypic manifestations of chromosomal abnormalities are highly diverse. These anomalies may be present in phenotypically normal individuals in whom they can increase the risk of recurrent miscarriage and birth defects and/or mental retardation. It is important to determine this risk to provide patients with appropriate genetic counseling.
Key words:
Karyotype
Chromosome
Cytogenetics
Phenotype
El Texto completo está disponible en PDF
Bibliografía
[1.]
M.W. Thompson, R.R. McInnes, H.F. Willard.
Citogenética clínica: principios generales y anomalías autosómicas.
Genética en Medicina, 4.a, pp. 191-218
[2.]
J. Nielsen, M. Wohlert.
Chromosome abnormalities found among 34910 newborn children: Results from a 13-year incidence study in Arhus, Denmark.
Hum Genet, 87 (1991), pp. 81-83
[3.]
A.E. Emery, R.F. Muller.
Incidencia de las anomalías cromosómicas.
Principios de genética, pp. 158-160
[4.]
J. Wolstenholme.
An introduction to human chromosomes an their analysis.
Human Cytogenetics. A practical aproach. Vol. I. Constitutional analysis, pp. 3-30
[5.]
D. Pinto, J.M. Ceballos, I. Castillo, J. Canto.
Full mosaic monosomy 22 in a child with DiGeorge syndrome facial appearance.
Am J Med Genet, 76 (1998), pp. 150-153
[6.]
I. Zelante, A. Notarangelo, A.I. Croce, M.R. Piemontese, P. Gasparini.
Cytogenetic and molecular analysis of trisomy 9. Case report and review.
Ann Genet, 37 (1994), pp. 21-25
[7.]
D.J. Roberts, M.M. Sandstrom, S. Van Praagh.
Characteristic of structural heart defects in trisomy 9 and their relationship to those in trisomy 13, 18 y 21.
Am Heart J, 125 (1993), pp. 1681-1690
[8.]
M.A. Feret, F. Galan, M.S. Aguilar, J.L. Serrano, M. Cidras, R. García.
Full trisomy 22 in a malformed newborn female.
Ann Genet, 34 (1991), pp. 44-46
[9.]
J. Phillipson, K. Benirschke, M. Bogart.
Two live-born infants with trisomy 22.
Pediatr Pathol, 10 (1990), pp. 1001-1005
[10.]
C. Turleau, J. De Grouchy, M.O. Cabanis, C. Nihoul, J.L. Dufier.
Trisomy 7. Internal intersexuality (masculine uterus) and severe abnormality of the anterior chamber of the eye.
Ann Genet, 27 (1984), pp. 115-117
[11.]
J.P. Park, J.B. Moeschler, E. Rawnsley, S.Z. Berg, D.H. Wurster-Hill.
Trisomy 20 mosaicism confirmed in a phenotypically normal liveborn.
Prenat Diagn, 9 (1989), pp. 501-504
[12.]
S.M. Pflueger, J.r. Scott CI, C.M. Moore.
Trisomy 7 and Potter syndrome.
Clin Genet, 25 (1984), pp. 543-548
[13.]
D. Warburton.
De novo balanced chromosome rearrangement and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of break points.
Am J Hum Genet, 49 (1991), pp. 995-1013
[14.]
A. Villa, L. Rodríguez Martínez.
Portadores de alteraciones cromosómicas balanceadas con fenotipo anómalo.
Boletín del ECEMC: Revista de dismorfología y epidemiología IV:, (1998), pp. 21-27
[15.]
P.A. Veld, R.F. Weber, F.J. Los, N. Den Hollander, M. Dhont, M.H. Pieters, et al.
Two cases of Robertsonian translocations in oligozoospermic males and their consequences for pregnancies induced by intracytoplasmatic sperm injection.
Hum Reprod, 12 (1997), pp. 1642-1644
[16.]
S. Rousseaux, E. Chevret, M. Monteil, J. Cozzi, R. Pelletier, D. Delafontaine, et al.
Sperm nuclei analysis of a robertsonian t(14q21q) carrier, by FISH, using three plasmids and two YAC probes.
Hum Genet, 96 (1995), pp. 655-660
[17.]
I. Sasagawa, T. Nakada, T. Terada, T. Katayama.
Robertsonian translocation associated with azoospermia.
Urol Int, 44 (1989), pp. 379-380
[18.]
I. Sasagawa, T. Nakada, M. Ishigoooka, T. Hashimoto, K. Izumiya, Y. Adachi.
An azoospermic male with reciprocal translocation t(3;4) (p21;q21).
Urol Int, 48 (1992), pp. 425-427
[19.]
G. Antinolo, S. Borrego, L. Fernández, J. Sánchez.
Translocation t(1;5) (q21;p13) in a male with azoospermia.
Actas Urol Esp, 13 (1989), pp. 465-466
[20.]
C. López-Gines, R. Gil, M. Gregori, A. Pellin.
An azoospermic male with reciprocal translocation t(1;15) (q11;p11).
Hum Genet, 77 (1987), pp. 294
[21.]
D. Abeliovich, G. Potoshnik, H. Dar, N. Lugasi, D. Rave.
Chromosomal rearrangements in three infertile men.
Andrologia, 18 (1986), pp. 147-151
[22.]
A.C. Chandley, R.M. Speed, S. McBeath, T.B. Hargreave.
A human 9;20 reciprocal translocation associated with male infertility analyzed at prophase and metaphase I meiosis.
Cytogenet Cell Genet, 41 (1986), pp. 145-153
[23.]
G. Bourrouillou, N. Dastugue, P. Colombies.
Chromosome studies in 952 infertile males with a sperm count below 10 million/ml.
Hum Genet, 71 (1985), pp. 366-367
[24.]
M. Micic, S. Micic, V. Diklié.
Chromosomal constitution of infertile men.
Clin Genet, 25 (1984), pp. 33-36
[25.]
D. Warburton.
Risk of phenotypic abnormalities in paracentric inversion carriers.
Am J Med Genet, 69 (1997), pp. 219
[26.]
V. Lindgren.
Genomic imprinting in disorders of growth.
Endocr Metab Clin North Am, 25 (1996), pp. 503-521
[27.]
S. Oriordan, A. Greenough, G.E. Moore, P. Bennett, K.H. Nicolaides.
Case Report: Uniparental disomy 16 in association with congenital heart disease.
Prenatal diagnosis, 16 (1996), pp. 963-965
[29.]
A.L. Zaslav, D. Blumenthal, J.E. Fox, K.A. Thomson, R. Segraves, M.E. Weinstein.
A rare inherited euchromatic heteromorphism on chromosome 1.
Prenat Diagn, 13 (1993), pp. 569-573
[30.]
L. Bortotto, E. Piovan, R. Furlan, H. Rivera, O. Zuffardi.
Chromosome imbalance, normal phenotype, and imprinting.
J Med Genet, 27 (1990), pp. 582-587
[31.]
N.D. Sumption, J.C. Barber.
A transmitted deletion of 2q13 to 2q14.1 causes no phenotypic abnormalities.
J Med Genet, 38 (2001), pp. 125-127
[32.]
N. Harada, J. Takano, T. Kondoh, H. Ohashi, T. Hasegawa, H. Sugawara, et al.
Duplication of 8p23.2: A benign cytogenetic variant?.
Am J Med Genet, 111 (2002), pp. 285-288
[33.]
J.J. Engelen, U. Moog, J.L. Evers, H. Dassen, J.C. Albrechts, A.J. Hamers.
Duplication of chromosome region 8p23.1-p23.3: A benign variant?.
Am J Med Genet, 91 (2000), pp. 18-21
[34.]
S.M. Jalal, M.K. Kukolich, M. García, D.W. Day.
Euchromatic 9q + heteromorphism in a family.
Am J Med Genet, 37 (1990), pp. 155-156
[35.]
G.C. Webb, E.J. Krumins, S.Z. Eichenbaum, L.E. Voullaire, E. Earle, K.H. Choo.
Non C-banding variants in some normal families might be homogeneously staining regions.
Hum Genet, 82 (1989), pp. 59-62
[36.]
H. Rivera, C. Turleau, J. De Grochy, C. Junien, S. Despoisse, J.M. Zucker.
Retinoblastoma del (13q14). Report of two patinets, one with a trisomic sib due to a maternal insertion.
Gene dosage effect for esterase D. Hum Genet, 59 (1981), pp. 211-214
[37.]
R. Stallard, D. Van Dyke.
Familial duplications of proximal 15q in normal individuals.
Am J Hum Genet, 39 (1986), pp. 133 A
[38.]
R. Brookwell, A. Velaba.
Proximal 15q variant with normal phenotype in three unrelated individuals.
Clin Genet, 31 (1987), pp. 311-314
[39.]
C.R. Bryke, W.R. Breg, V.R. Potluri, T.L. Yang-Feng.
Duplication of euchromatin without phenotypic effect: A variant of chromosome 16.
Am J Med Genet, 36 (1990), pp. 43-44
[40.]
I. Pinel, A.D. Bustamante, M. Urioste, V. Felix, A. Ureta, M.L. Martínez-Frías.
An unusual variant of chromosome 16.
Hum Genet, 80 (1988), pp. 194
[41.]
P.W. Thompson, S.H. Roberts.
A new variant of chromosome 16.
Hum Genet, 76 (1987), pp. 100-101
[42.]
S.M. Jalal, N.R. Schneider, M.K. Kukolich, G.N. Wilson.
Euchromatic 16p + heteromorphism.
First report in North America, 37 (1990), pp. 548-550
[43.]
D.J. Wolff, L.J. Raffel, M.M. Ferre, S. Schwartz.
Prenatal ascertainment of an inherited dup(18p) associated with apparently normal phenotype.
Am J Med Genet, 41 (1991), pp. 319-321
[44.]
J. Overhauser, M.S. Golbus, S.A. Schonberg, J.J. Wasmuth.
Molecular analysis of an unbalanced deletion of the short arm of chromosome 5 that produces no phenotype.
Am J Hum Genet, 39 (1986), pp. 1-10
[45.]
J. Couturier, N. Morchon-Delvallez, B. Dutrillaux.
Deletion of band 13q21 is compatible with normal phenotype.
Hum Genet, 70 (1985), pp. 87-91
[46.]
J.C.K. Barber, H. Mahl, J. Portch.
Crawfurd MD’A. Interstitial deletions without phenotypic effect: Prenatal diagnosis of a new family and brief review.
Prenat Diagn, 11 (1991), pp. 411-416
[47.]
D.R. Witt, S.P. Lew, J. Mann.
Heritable deletion of band 16q21 with normal phenotype: Relationship to late replicating DNA.
Am J Hum Genet, 43 (1988), pp. A127
[48.]
J. Lamb, A.O. Wilkie, P.C. Harris, V.J. Buckle, R.H. Lindenbaum, N.J. Barton, et al.
Detection of break points in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease.
Lancet, 2 (1989), pp. 819-824
[49.]
J. Flint, S. Knight.
The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation.
Curr Opin Genet Dev, 13 (2003), pp. 310-316
[50.]
B.B.A. De Vries, R. Winter, A. Schinzel, C. Van Ravenswaaij-Arts.
Telomeres: A diagnosis at the end of the chromosomes.
J Med Genet, 40 (2003), pp. 385-398
[51.]
M. Moreno-García, E. Barreiro.
Síndromes de microdeleción I: S. de Prader-Willi y de Angelman.
Acta Pediatr Esp, 57 (1999), pp. 300-308
[52.]
M. Moreno-García, E. Barreiro.
Síndromes de microdeleción (II): Williams, CATCH-22, Langer-Giedion, Smith-Magenis y retinoblastoma.
Acta Pediatr Esp, 57 (1999), pp. 354-363
[53.]
M. Moreno-García, J. Sánchez del Pozo, F.J. Férnadez, A. Moreno, E. Barreiro.
Síndrome de WAGR. A propósito de un caso.
An Esp Pediatr, 49 (1998), pp. 381-387
[54.]
M Moreno García, E. Barreiro.
Síndromes de microdeleción (III). WAGR, Beckwith-Wiedemann, Miller Dieker y Rubinstein-Taybi.
Acta Pediatr Esp, 57 (1999), pp. 405-413
[55.]
R. Weissörtel, T.M. Strom, H.G. Dörr, A. Rauch, T. Meitinger.
Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation.
Clin Genet, 54 (1998), pp. 45-51
[56.]
R. Legouis, M. Cohen-Salmon, D.e.l. Castillo, C. Petit.
Isolation and characterization of the gene responsible for the X chromosome- linked Kallmann syndrome.
Biomed Pharmacother, 48 (1994), pp. 241-246
[57.]
F.J. Ramos, J.L. Olivares, M. Bueno.
Síndromes de los genes contiguos.
An Esp Ped, 82 (1996), pp. 25-29
[58.]
R. Dada, N.P. Gupta, K. Kucheria.
Molecular screening for Yq microdeletion in men with idiopathic oligozoospermia and azoospermia.
J Biosci, 28 (2003), pp. 163-168
[59.]
C.H. Gravholt, U. Friedrich.
Molecular cytogenetic study of supernumerary marker chromosomes in an unselected group of children.
Am J Med Genet, 56 (1995), pp. 106-111
[60.]
T. Webb, C.A. Hardy, M. King, E. Watkiss, C. Mitchell, T. Cole.
A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes.
Clin Genet, 53 (1998), pp. 34-43
[61.]
W.L. Flejter, P.E. Bennett-Baker, M. Ghaziuddin, M. McDonald, S. Sheldon, J.L. Gorski.
Cytogenetic and molecular analysis of inv dup (15) chromosomes observed in two patients with autistic disorder and mental retardation.
Am J Med Genet, 61 (1996), pp. 182-187
[62.]
K.E. Ohpheim, A. Brittingham, D. Chapman, T.H. Norwood.
Balanced reciprocal translocation mosaicism: How frequent?.
Am J Med Genet, 57 (1995), pp. 601-604
[63.]
D.A. Graham, M.M. Jewitt, P.H. Fitzgerald.
Trisomy 18 mosaicism with complete peripheral lymphocyte trisomy and normal intelligence.
Clin Genet, 41 (1992), pp. 36-38
[64.]
C.J. English, J.A. Goodship, A. Jackson, M. Lowry, J. Wolstenholme.
Trisomy 12 mosaicism in a 7 year old girl with dysmorphic features and normal mental development.
J Med Genet, 31 (1994), pp. 253-254
[65.]
T. Costa, M. Lambert, I. Teshima, P.N. Ray, C.L. Richer, L. Dallaire.
Monozygotic twins 45,X/46,XY mosaicism discordant for phenotypic sex.
Am J Med Genet, 75 (1998), pp. 40-44
[66.]
A. Fujimoto, W.D. Boelter, R.S. Sparke, M.S. Lin, K. Battersby.
Monozygotic twins of discordant sex both 45,X/46X,idic(Y) mosaicism.
Am J Med Genet, 41 (1991), pp. 239-245
Copyright © 2004. Asociación Española de Pediatría
