Interstitial 4q deletion and isodicentric Y-chromosome in a patient with dysmorphic features

Molecular Syndromology

Volumn 3, Issue 1, 2012, Pages 39-43

  Mancini, T I ^a   Oliveira, M M ^a   Dutra, A R N ^a   Perez, A B A ^a   Minillo, R M ^a   Takeno, S S ^a   Melaragno, M I ^a  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

4q deletion; BAC; Dysmorphic features; FISH; Isodicentric Y; Karyotype; Single nucleotide polymorphism

Indexed keywords

DNA;

ARTICLE; BRAIN ATROPHY; CASE REPORT; CHILD; CHROMOSOME 4Q; CHROMOSOME BANDING PATTERN; CHROMOSOME G BAND; CYTOGENETICS; DANDY WALKER SYNDROME; FACE MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; HEMANGIOMA; HUMAN; INTERSTITIAL CHROMOSOME DELETION; KARYOTYPE 46,XY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; STRUCTURAL CHROMOSOME ABERRATION; Y CHROMOSOME;

EID: 84862495520     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000338468     Document Type: Article

References (33)

1. Baldwin EL, May LF, Justice AN, Martin CL, Ledbetter DH: Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues. Am J Hum Genet 82: 398-410 (2008).
2. Benito-Sanz S, del Blanco DG, Aza-Carmona M, Magano LF, Lapunzina P, et al: PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri- Weill dyschondrosteosis (LWD) probands. Hum Mutat 27: 1062 (2006).
3. Benito-Sanz S, Barroso E, Heine-Suñer D, Hisado-Oliva A, Romanelli V, et al: Clinical and molecular evaluation of SHOX /PAR1 duplications in Léri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS). J Clin Endocrinol Metab 96:E404-412 (2011).
4. Bergeron MB, Brochu P, Lemyre E, Lemieux N: Correlation of intercentromeric distance, mosaicism, and sexual phenotype: molecular localization of breakpoints in isodicentric Y chromosomes. Am J Med Genet A 155A:2705-2712 (2011).
5. Bikfalvi A, Klein S, Pintucci G, Rifkin DB: Biological roles of fibroblast growth factor-2. Endocr Rev 18: 26-45 (1997).
6. Chandley AC, Ambros P, McBeath S, Hargreave TB, Kilanowski F, Spowart G: Short arm dicentric Y chromosome with associated statural defects in a sterile man. Hum Genet 73: 350-353 (1986).
7. Chen J, Wildhardt G, Zhong Z, Röth R, Weiss B, et al: Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain. J MedGenet 46: 834-839 (2009).
8. DesGroseilliers M, Beaulieu Bergeron M, Brochu P, Lemyre E, Lemieux N: Phenotypic variability in isodicentric Y patients: study of nine cases. Clin Genet 70: 145-150 (2006).
9. Dono R, Texido G, Dussel R, Ehmke H, Zeller R: Impaired cerebral cortex development and blood pressure regulation in Fgf2 -deficient mice. EMBO J 17: 4213-4225 (1998).
10. Gijsbers AC, Ruivenkamp CA: Molecular karyotyping: from microscope to SNP arrays. Horm Res Paediatr 76: 208-213 (2011).
11. Gu W, Zhang F, Lupski JR: Mechanisms for human genomic rearrangements. Pathogenetics 1: 4 (2008).
12. Hirschfeldova K, Solc R, Baxova A, Zapletalova J, Kebrdlova V, et al: SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis. Gene 491: 123-127 (2012).
13. Hsu LY: Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet 53: 108-140 (1994).
14. Huber C, Rosilio M, Munnich A, Cormier-Daire V; French SHOX GeNeSIS Module: High incidence of SHOX anomalies in individuals with short stature. J Med Genet 43: 735-739 (2006).
15. Jorge AA, Souza SC, Nishi MY, Billerbeck AE, Libório DC, et al: SHOX mutations in idiopathic short stature and Léri-Weill dyschondrosteosis: frequency and phenotypic variability. Clin Endocrinol (Oxf) 66: 130-135 (2007).
16. Jorgez CJ, Weedin JW, Sahin A, Tannour-Louet M, Han S, et al: Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions. J Clin Endocrinol Metab 96:E674-679 (2011).
17. Koolen DA, Pfundt R, de Leeuw N, Hehir-Kwa JY, Nillesen WM, et al: Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Hum Mutat 30: 283-292 (2009).
18. Kulikowski LD, Christ LA, Nogueira SI, Brunoni D, Schwartz S, Melaragno MI: Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 ] pter and partial trisomy 1q41 ] qter suggests neo-telomere formation in stabilizing the deleted chromosome. Am J Med Genet A 140: 82-87 (2006).
19. Lo TL, Fong CW, Yusoff P, McKie AB, Chua MS, et al: Sprouty and cancer: the first terms report. Cancer Lett 242: 141-150 (2006).
20. Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, et al: Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet 80: 616-632 (2007).
21. Mahadevaiah SK, Odorisio T, Elliott DJ, Rattigan A, Szot M, et al: Mouse homologues of the human AZF candidate gene RBM are expressed in spermatogonia and spermatids, and map to a Y chromosome deletion interval associated with a high incidence of sperm abnormalities. Hum Mol Genet 7: 715-727 (1998).
22. Mencarelli MA, Katzaki E, Papa FT, Sampieri K, Caselli R, et al: Private inherited microdeletion/ microduplications: implications in clinical practice. Eur J Med Genet 51: 409- 416 (2008).
23. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, et al: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86: 749-764 (2010).
24. Ortega S, Ittmann M, Tsang SH, Ehrlich M, Basilico C: Neuronal defects and delayed wound healing in mice lacking fibroblast growth factor 2. Proc Natl Acad Sci USA 95: 5672-5677 (1998).
25. Shi YC, Cui YX, Zhou YC, Wei L, Jiang HT, et al: A rare Y chromosome constitutional rearrangement: a partial AZFb deletion and duplication within chromosome Yp in an infertile man with severe oligoasthenoteratozoospermia. Int J Androl 34: 461-469 (2010).
26. Sirivatanauksorn Y, Sirivatanauksorn V, Srisawat C, Khongmanee A, Tongkham C: Differential expression of sprouty genes in hepatocellular carcinoma. J Surg Oncol 105: 273- 276 (2012).
27. Slavotinek AM: Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet 124: 1-17 (2008).
28. Sugiura N, Patel RG, Corriveau RA: N-methyl- D-aspartate receptors regulate a group of transiently expressed genes in the developing brain. J Biol Chem 276: 14257-14263 (2001).
29. Sugiura N, Adams SM, Corriveau RA: An evolutionarily conserved N-terminal acetyltransferase complex associated with neuronal development. J Biol Chem 278: 40113-40120 (2003).
30. Thomas NS, Harvey JF, Bunyan DJ, Rankin J, Grigelioniene G, et al: Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature. Am J Med Genet A 149A:1407-1414 (2009).
31. Vazna A, Havlovicova M, Sedlacek Z: Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism. Gene 407: 186-192 (2008).
32. Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, et al: Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 5: 933-943 (1996).
33. Xu J, Siu VM: Is there a correlation between the proportion of cells with isodicentric Yp at amniocentesis and phenotypic sex? Prenat Diagn 30: 839-844 (2010).