Familial balanced translocation leading to an offspring with phenotypic manifestations of 9p syndrome

Genetics and Molecular Research

Volumn 13, Issue 2, 2014, Pages 4302-4310

  Abreu, L S ^a   Brassesco, M S ^b   Moreira, M L C ^a   Pina Neto, J M ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b Departamento de Biologia Ciências e Letras de Ribeirão Preto   (Brazil)

Author keywords

9p deletion; Familial rearrangement; Fluorescence in situ hibridization; Genetic counseling; Multiplex ligation proble amplification subtelomeric; Trigonocephaly

Indexed keywords

9P DELETION SYNDROME; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 1Q; CHROMOSOME ANALYSIS; CHROMOSOME DISORDER; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; DISORDER OF SEX DEVELOPMENT; FACE DYSMORPHIA; FAMILIAL BALANCED CRYPTIC TRANSLOCATION; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INTELLECTUAL IMPAIRMENT; LONG PHILTRUM; MALE; MIDFACE HYPOPLASIA; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPE; PRESCHOOL CHILD; PROGENY; SCHOOL CHILD; UPWARD PALPEBRAL SLANT; CHROMOSOME 1; CHROMOSOME 9; CHROMOSOME DELETION; FEMALE; GENE TRANSLOCATION; GENETICS; PROCEDURES;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 9; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; TRANSLOCATION, GENETIC;

EID: 84902377942     PISSN: None     EISSN: 16765680     Source Type: Journal    
DOI: 10.4238/2014.June.9.16     Document Type: Article

References (25)

1. Alfi O, Donnell GN, Crandall BF, Derencsenyi A, et al. (1973). Deletion of the short arm of chromosome no.9 (46,9p-): a new deletion syndrome. Ann. Genet. 16: 17-22.
2. Balikova I, Menten B, de Ravel T, Le Caignec C, et al. (2007). Subtelomeric imbalances in phenotypically normal individuals. Hum. Mutat. 28: 958-967.
3. Barbaro M, Cicognani A, Balsamo A, Lofgren A, et al. (2008). Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis. Clin. Genet. 73: 453-464.
4. Barbaro M, Balsamo A, Anderlid BM, Myhre AG, et al. (2009). Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA. Eur. J. Hum. Genet. 17: 1439-1447.
5. Bartsch C, Aslan M, Köhler J, Miny P, et al. (2001). Duplication dup(1)(q32q44) detected by comparative genomic hybridization (CGH): further delineation of trisomies 1q. Fetal Diagn. Ther. 16: 265-273.
6. Calvari V, Bertini V, De Grandi A, Peverali G, et al. (2000). A new submicroscopic deletion that refines the 9p region for sex reversal. Genomics 65: 203-212.
7. Chen CP, Su YN, Chern SR, Hsu CY, et al. (2011). Inv dup del(9p): prenatal diagnosis and molecular cytogenetic characterization by fluorescence in situ ybridization and array comparative genomic hybridization. Taiwan. J. Obstet. Gynecol. 50: 67-73.
8. Christ LA, Crowe CA, Micale MA, Conroy JM, et al. (1999). Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome. Am. J. Hum. Genet. 65: 1387-1395.
9. Faas BH, de Leeuw N, Mieloo H, Bruinenberg J, et al. (2007). Further refinement of the candidate region for monosomy 9p syndrome. Am. J. Med. Genet. A. 143A: 2353-2356.
10. Griggs BL, Ladd S, Saul RA, DuPont BR, et al. (2008). Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities. Genomics 91: 195-202.
11. Hauge X, Raca G, Cooper S, May K, et al. (2008). Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p. Genet. Med. 10: 599-611.
12. Hoo JJ, Fischer A and Fuhrmann W (1982). Familial tiny 9p/20p translocation: 9p24. The critical segment for monosomy 9p syndrome. Ann. Genet. 25: 249-252.
13. Huret JL, Leonard C, Forestier B, Rethoré MO, et al. (1988). Eleven new cases of del(9p) and features from 80 cases. J. Med. Genet. 25: 741-749.
14. Kawara H, Yamamoto T, Harada N, Yoshiura K, et al. (2006). Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23. Am. J. Med. Genet. A. 140: 373-377.
15. Kulikowski LD, Bellucco FT, Nogueira SI, Christofolini DM, et al. (2008). Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes. Am. J. Med. Genet. A 146A: 2663-2667.
16. Lenzini E, Ballarati L, Drigo P, Carrozzi M, et al. (2009). 1q44-qter trisomy: clinical report and review of the literature. Genet. Test Mol. Biomarkers 13: 79-86.
17. Lerer I, Sagi M, Meiner V, Cohen T, et al. (2005). Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy. Hum. Mol. Genet. 14: 3911-3920.
18. Rooms L, Reyniers E, Wuyts W, Storm K, et al. (2006). Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics. Clin. Genet. 69: 58-64.
19. Seabright M (1971). A rapid banding technique for human chromosomes. Lancet 2: 971-972.
20. Shan Z, Zabel B, Trautmann U, Hillig U, et al. (2000). FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates. Eur. J. Hum. Genet. 8: 167-173.
21. Shashi V, Berry D, Stamper TH and Pettenati M (1998). A further case of choanal atresia in the deletion (9p) syndrome. Am. J. Med. Genet. 80: 440.
22. Smith CA, McClive PJ, Western PS, Reed KJ, et al. (1999). Conservation of a sex-determining gene. Nature 402: 601-602.
23. Swinkels ME, Simons A, Smeets DF, Vissers LE, et al. (2008). Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. Am. J. Med. Genet. A 146A: 1430-1438.
24. Taylor LD, Krizman DB, Jankovic J, Hayani A, et al. (1991). 9p monosomy in a patient with Gilles de la Tourette's syndrome. Neurology 41: 1513-1515.
25. Verbraak FD, Pogány K, Pilon JW, Mooy CM, et al. (1992). Congenital glaucoma in a child with partial 1q duplication and 9p deletion. Ophthalmic. Paediatr. Genet. 13: 165-170.