Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype

American Journal of Medical Genetics, Part A

Volumn 146, Issue 11, 2008, Pages 1430-1438

  Swinkels, Mariëlle E M ^a,b   Simons, Annet ^a,f   Smeets, Dominique F ^a   Vissers, Lisenka E ^a   Veltman, Joris A ^a   Pfundt, Rolph ^a   De Vries, Bert B A ^a   Faas, Brigitte H W ^a   Schrander Stumpel, Connie T R M ^c   McCann, Emma ^d   Sweeney, Elizabeth ^d   May, Paul ^d   Draaisma, Jos M ^a   Knoers, Nine V ^a   Van Kessel, Ad Geurts ^a   Van Ravenswaaij Arts, Conny M A ^a,e  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^e UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Array CGH; CER1; Chromosome 9; Craniosynostosis; Deletion; FISH; Trigonocephaly

Indexed keywords

PROTEIN; PROTEIN CER 1;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME DELETION 9P SYNDROME; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; FEMALE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; MALE; NETHERLANDS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SYNDROME;

ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 9; CRANIOFACIAL ABNORMALITIES; CYTOKINES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; MALE; MENTAL RETARDATION; MUSCLE HYPOTONIA; NETHERLANDS; PHENOTYPE; SYNDROME;

EID: 44449161472     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32310     Document Type: Article

References (25)

1. Alfi OS, Donnell GN, Crandall BF, Derencsenye A, Menon R. 1973. Deletion of the short arm of chromosome 9 (46,9p-): A new deletion syndrome. Ann Genet 16:17-22.
2. Biben C, Stanley E, Fabri L, Kotecha S, Rhinn M, Drinkwater C, Lah M, Wang CC, Nash A, Hilton D, Ang SL, Mohun T, Harvey RP. 1998. Murine Cerberus homologue mCer-1: A candidate anterior patterning molecule. Dev Biol 194:135-151.
3. Bilo RAC, Voorhoeve HWA, Koot JM. 1995. Kind in ontwikkeling; een handreiking bij de observatie van jonge kinderen. Utrecht: Lemma BV.
4. Brouwers EA, Burgmeijer RJF, Laurent de Angulo MS. 1996. Ontwikkelingsonderzoek op het consultatiebureau; Handboek bij het vernieuwde Van Wiechenonderzoek. Assen: van Gorcum & comp BV.
5. Burton BK, Pettenati MJ, Block SM, Bensen J, Roach ES. 1989. Nonketotic hyperglycinemia in a patient with the 9p-syndrome. Am J Med Genet 32:504-505.
6. Calvari V, Bertini V, De Grandi A, Peverali G, Zuffardi O, Ferguson-Smith M, Knudtzon J, Camerino G, Borsani G, Guioli S. 2000. A new submicroscopic deletion that refines the 9p region for sex reversal. Genomics 65:203-212.
7. Chilosi A, Battaglia A, Brizzolara D, Cipriani P, Pfanner L, Carey JC. 2001. Del(9p) syndrome: Proposed behavior phenotype. Am J Med Genet 100:138-144.
8. Christ LA, Crowe CA, Micale MA, Conroy JM, Schwartz S. 1999. Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome. Am J Hum Genet 65:1387-1395.
9. de Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, Janssen IM, Reijmersdal S, Nillesen WM, Huys EH, Leeuw N, Smeets D, Sistermans EA, Feuth T, van Ravenswaaij-Arts CM, van Kessel AG, Schoenmakers EF, Brunner HG, Veltman JA. 2005. Diagnostic genome profiling in mental retardation. Am J Hum Genet 77:606-616.
10. Faas BH, de Leeuw N, Mieloo H, Bruinenberg J, de Vries BB. 2007. Further refinement of the candidate region for monosomy 9p syndrome. Am J Med Genet Part A 143A:2353-2356.
11. Hou JW. 2003. Del(9p) syndrome: Report of four cases. Acta PaediatrTaiwan 44:50-53.
12. Huret JL, Leonard C, Forestier B, Rethoré MO, Lejeune J. 1988. Eleven new cases of del(9p) and features from 80 cases. J Med Genet 25:741-749.
13. Jehee FS, Johnson D, Alonso LG, Cavalcanti DP, de Sa Moreira E, Alberto FL, Kok F, Kim C, Wall SA, Jabs EW, Boyadjiev SA, Wilkie AO, Passos-Bueno MR. 2005. Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly. Clin Genet 67:503-510.
14. Jehee FS, Alonso LG, Cavalcanti DP, Kim C, Wall SA, Mulliker JB, Sun M, Jabs EW, Boyadjiev SA, Wilkie AO, Passos-Bueno MR. 2006. Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients. Cleft Palate Craniofac J 43:148-151.
15. Kaiser R, Muller-Oerlinghausen B, Filler D, Tremblay PB, Berghofer A, Roots I, Brockmoller J. 2002. Correlation between serotonin uptake in human blood platelets with the 44-bp polymorphism and the 17-bp variable number of tandem repeats of the serotonin transporter. Am J Med Genet Part B 114B:323-328.
16. Kawara H, Yamamoto T, Harada N, Yoshiura K, Niikawa N, Nishimura A, Mizuguchi T, Matsumoto N. 2006. Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23. Am J Med Genet Part A 140A:373-377.
17. Muroya K, Okuyama T, Goishi K, Ogiso Y, Fukuda S, Kameyama J, Sato H, Suzuki Y, Terasaki H, Gomyo H, Wakui K, Fukushima Y, Ogata T. 2000. Sex-determining gene(s) on distal 9p: Clinical and molecular studies in six cases. J Clin Endocrinol Metab 85:3094-3100.
18. Schinzel A. 2001. Catalogue of unbalanced chromosome aberrations in man. Berlin, New York: Walter de Gruyter. 399 p.
19. Seghezzi L, Maraschio P, Bozzola M, Maserati E, Tupler R, Marchi A, Tiepolo L. 1999. Ring chromosome 9 with a 9p22.3-9p24.3 duplication. Eur J Pediatr 158:791-793.
20. Shashi V, Golden WL, Fryburg JS. 1994. Choanal atresia in a patient with the deletion (9p) syndrome. Am J Med Genet 49: 88-90.
21. Shashi V, Berry D, Stamper TH, Pettenati M. 1998. A further case of choanal atresia in the deletion (9p) syndrome. Am J Med Genet 80:440.
22. Shawlot W, Min Deng J, Wakamiya M, Behringer RR. 2000. The cerberus-related gene, Cerr1, is not essential for mouse head formation. Genesis 26:253-258.
23. Vissers LE, de Vries BB, Osoegawa K, Janssen IM, Feuth T, Choy CO, Straatman H, Van der Vliet W, Huys EH, van Rijk A, Smeets D, van Ravenswaaij-Arts CM, Knoers NV, van der Burgt I, de Jong PJ, Brunner HG, van Kessel AG, Schoenmakers EF, Veltman JA. 2003. Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 73:1261-1270.
24. Young RS, Reed T, Hodes ME, Palmer CG. 1982. The dermatoglyphic and clinical features of the 9p trisomy and partial 9p monosomy syndromes. Hum Genet 62:31-39.
25. Young RS, Bader P, Palmer CG, Kaler SG, Hodes ME. 1983. Brief clinical report: Two children with de novo del (9p). Am J Med Genet 14:751-757.