Ring 2 chromosome associated with failure to thrive, microcephaly and dysmorphic facial features

Gene

Volumn 529, Issue 1, 2013, Pages 65-68

  López Uriarte, Arelí ^a   Quintero Rivera, Fabiola ^b   de la Fuente Cortez, Beatriz ^a   Puente, Viviana Gómez ^a   Campos, María del Roble Velazco ^a   de Villarreal, Laura E Martínez ^a  

^a Medicina UANL   (Mexico)

^b UCLA MEDICAL CENTER   (United States)

Author keywords

Chromosome microarray analysis; Dysmorphic facial features; Failure to thrive; Microcephaly; Molecular cytogenetics; Ring 2 chromosome

Indexed keywords

GENOMIC DNA;

APGAR SCORE; ARTICLE; BLOOD; BRACHYCEPHALY; BRACHYDACTYLY; CASE REPORT; CESAREAN SECTION; CHROMOSOME; CHROMOSOME 2P; CHROMOSOME ABERRATION; CLINODACTYLY; CRYPTORCHISM; CYTOGENETICS; EPICANTHUS; EYEBROW; FACE DYSMORPHIA; FAILURE TO THRIVE; HUMAN; INFANT; INTRAUTERINE GROWTH RETARDATION; KYPHOSIS; LEG; LOW SET EAR; MALE; METAPHASE; MICROARRAY ANALYSIS; MICROCEPHALY; OLIGOHYDRAMNIOS; PHENOTYPE; PHIMOSIS; PRIORITY JOURNAL; T LYMPHOCYTE;

EID: 84883556014     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.06.056     Document Type: Article

References (21)

1. Basinko A., Giovannucci Uzielli M.L., Scarselli G., Priolo M., Timpani G., De Braekeleer M. Clinical and molecular cytogenetic studies in ring chromosome 5: report of a child with congenital abnormalities. Eur. J. Med. Genet. 2012, 55(2):112-116.
2. Cote G.B., Katsantoni A., Deligeorgis D. The cytogenetic and clinical implications of a ring chromosome 2. Ann. Genet. 1981, 24(4):231-235.
3. Dee S.L., Clark A.T. A case of ring chromosome 2 with growth retardation, mild dysmorphism, and microdeletion of 2p detected using FISH. J. Med. Genet. 2001, 38:e32.
4. Fang Y.Y., Eyre H.J., Bohlander S.K., Estop A., McPherson E., Trager T. Mechanisms of small ring formation suggested by the molecular characterization of two small accessory ring chromosomes derived from chromosome 4. Am. J. Hum. Genet. 1995, 57:1137-1142.
5. Gardner R.J.M., Sutherland G.R. Chromosome Abnormalities and Genetic Counseling 2003, Oxford University Press, EUA. 3a edición.
6. Guediche N., et al. Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20. Am. J. Med. Genet. A 2010, 152 A(2):464-471.
7. Guilherme R.S., et al. Mechanisms of ring chromosome formation, ring instability and clinical consequences. BMC Med. Genet. 2011, 12:171. (21).
8. Hatem E., Meriam B.R., Walid D., Adenen M., Moez G., Ali S. Molecular characterization of a ring chromosome 15 in a fetus with intra uterine growth retardation and diaphragmatic hernia. Prenat. Diagn. 2007, 27(5):471-474.
9. Jansen M., Beemer F.A., van der Heiden C., Van Hemel J.O., Van den Brande J.L. Ring chromosome 2: clinical, chromosomal, and biochemical aspects. Hum. Genet. 1982, 60(1):91-95.
10. Koc A., et al. A case with a ring chromosome 22. Turk. J. Pediatr. 2008, 50(2):193-196.
11. Kosho T., et al. "Ring syndrome" involving chromosome 2 confirmed by FISH analysis using chromosome-specific subtelomeric probes. Genet. Couns. 2005, 16(1):65-70.
12. Kosztolányi G. Does 'ring syndrome' exist? An analysis of 207 case reports on patients with a ring autosome. Hum. Genet. 1987, 75:174-179.
13. Lacassie Y., Arriaza M.I., Vargas A., La Motta I. Ring 2 chromosome: ten-year follow-up report. Am. J. Med. Genet. 1999, 85:117-122.
14. Maraschio P., Danesino C., Garau A., Saputo V., Vigi V., Volpato S. Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation. Hum. Genet. 1979, 48:157-167.
15. McGinniss M.J., et al. Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21. Am. J. Hum. Genet. 1992, 50(1):15-28.
16. Sigurdardottir S., Goodman B.K. Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome. Am. J. Med. Genet. 1999, 87(5):384-390. (22).
17. Sutherland G.R., Carter R.F. 46, XX/46, XX, r (2)(p25q37) mosaicism: clinical and cytogenetic studies. Ann. Genet. 1978, 21(3):164-167.
18. Vigfusson N.V., Kapstafer K.J., Lloyd M.A. Ring chromosome 2 in a child with growth failure and few congenital abnormalities. Am. J. Med. Genet. 1980, 7(3):383-389.
19. Wong C., Kazazian H.H., Stetten G., William C. Molecular mechanism in the formation of a human ring chromosome 21. Genet. Proc. Natl. Acad. Sci. 1989, 86:1914-1918.
20. Wyandt H.E., Kasprzak R., Lamb A., Willson K., Wilson W.G., Kelly T.E. Human chromosome 2 rod/ring mosaicism: probable origin by prezygotic breakage and intrachromosomal exchange. Cytogenet. Cell Genet. 1982, 33(3):222-231.
21. Zollino M., Ponzi E., Gobbi G., Neri G. The ring 14 syndrome. Eur. J. Med. Genet. 2012, 55(5):374-380.