Deletion 9q34.3 syndrome: Genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

Journal of Medical Genetics

Volumn 42, Issue 4, 2005, Pages 328-335

  Yatsenko, S A ^a   Cheung, S W ^a   Scott, D A ^a,b   Nowaczyk, M J M ^c   Tarnopolsky, M ^c   Naidu, S ^d,e   Bibat, G ^e   Patel, A ^a   Leroy, J G ^a,f   Scaglia, F ^a   Stankiewicz, P ^a   Lupski, James R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c MCMASTER UNIVERSITY   (Canada)

^d JOHNS HOPKINS UNIVERSITY   (United States)

^e KENNEDY KRIEGER INSTITUTE   (United States)

^f GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CACNA1B GENE; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DELETION 9Q34.3 SYNDROME; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; EHMT1 GENE; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MALFORMATION SYNDROME; MENTAL RETARDATION MALFORMATION SYNDROME; MICROCEPHALY; MUSCLE HYPOTONIA; OPITZ C TRIGONOCEPHALY; OPITZ SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SPEECH DISORDER;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 9; CRANIOFACIAL ABNORMALITIES; CYTOGENETICS; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; LANGUAGE DEVELOPMENT DISORDERS; MICROCEPHALY; PHENOTYPE; SYNDROME;

EID: 20244363241     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.028258     Document Type: Article

References (33)

1. Anderlid B-M, Schoumans J, Annerén G, Sahlén S, Kyllerman M, Vujic M, Hagberg B, Blennow E, Nordenskjöld M. Subtelomeric rearrangements detected in patients with idiopathic mental retardation. Am J Med Genet 2002;107:275-84.
2. Ayyash H, Mueller R, Maltby E, Horsfield P, Telford N, Tyler R. A report of a child with a deletion (9)(q34.3): a recognisable phenotype. J Med Genet 1997;34:610-2.
3. Cormier-Daire V, Molinari F, Rio M, Raoul O, de Blois M-C, Romana S, Vekemans M, Munnich A, Colleaux L. Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood? J Med Genet 2003;40:300-3.
4. Dawson AJ, Putnam S, Schultz J, Riordan D, Prasad C, Greenberg CR, Chodirker BN, Mhanni AA, Chudley AE. Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic features. Clin Genet 2002;62:488-94.
5. Font-Montgomery E, Weaver DD, Walsh L, Christensen C, Thurston VC. Clinical and cytogenetic manifestations of subtelomeric aberrations: report of six cases. Birth Defects Res A Clin Mol Teratol, 2004;70:408-15.
6. Harado N, Visser R, Dawson A, Fukamachi M, Iwakoshi M, Okamoto N, Kishino T, Niikawa N, Matsumoto N. A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome. J Hum Genet 2004;49:440-4.
7. Iwakoshi M, Okamoto N, Harada N, Nakamura T, Yamamori S, Fujita H, Niikawa N, Matsumoto N. 9q34.3 deletion syndrome in three unrelated children. Am J Med Genet 2004;126A:278-83.
8. Knight SJL, Regan R, Nicod A, Horsley SW, Kearney L, Homfray T, Winter RM, Bolton P, Flint J. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 1999;354:1676-81.
9. Quigley DI, Kaiser-Rogers K, Aylsworth AS, Rao KW. Submicroscopic deletion 9(q34.3) and duplication 19(p13.3): identified by subtelomere specific FISH probes. Am J Med Genet 2004;125A:67-72.
10. Schimmenti LA, Berry SA, Tuchman M, Hirsch B. Infant with multiple congenital anomalies and deletion (9)(q34.3). Am J Med Genet 1994;51:140-2.
11. Stewart DR, Huang A, Faravelli F, Anderlid B-M, Medne L, Ciprero K, Kaur M, Rossi E, Tenconi R, Nordenskjöld M, Gripp KW, Nicholson L, Meschino WS, Capua E, Quarrell OWJ, Flint J, Irons M, Giampietro PF, Schowalter DB, Zaleski CA, Malacarne M, Zackai EH, Spinner NB, Krantz ID. Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. Am J Med Genet 2004;128A:340-51.
12. Thauvin-Robinet C, Faivre L, Cusin V, Khau Van Kien P, Collier P, Parker KL, Fellous M, Borgnon J, Gounot E, Huet F, Sapin E, Mugneret F. Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq. Am J Med Genet 2004;126A:303-7.
13. Allderdice PW, Kaita H, Lewis M, McAlpine PJ, Wong P, Anderson J, Giblett ER. Segregation of marker loci in families with an inherited paracentric insertion of chromosome 9. Am J Hum Genet 1986;39:612-7.
14. Opitz JM, Johnson RC, McCreadie SR, Smith DW. The C syndrome of multiple congenital anomalies. Birth Defects Orig Art Ser 1969;2:161-6.
15. Antley RM, Hwang DS, Theopold W, Gorlin RJ, Steeper T, Pitt D, Danks DM, McPherson E, Bartels H, Wiedemann H-R, Opitz JM. Further delineation of the C (trigonocephaly) syndrome. Am J Med Genet 1981;9:147-63.
16. Sargent C, Burn J, Baraitser M, Pembrey ME. Trigonocephaly and the Opitz C syndrome. J Med Genet 1985;22:39-45.
17. Haaf T, Hofmann R, Schmid M. Opitz trigonocephaly syndrome. Am J Med Genet 1991;40:444-6.
18. Schaap C, Schrander-Stumpel CTRM, Fryns JP. Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly. Genet Couns 1992;3:209-15.
19. Omran H, Hildebrandt F, Korinthenberg R, Brandis M. Probable Opitz trigonocephaly C syndrome with medulloblastoma. Am J Med Genet 1997;69:395-9.
20. McGaughran J, Aftimos S, Oei P. Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome. Am J Med Genet 2000;94:311-5.
21. Glickstein J, Karasik J, Garcia Caride D, Marion RW. "C" trigonocephaly syndrome: report of a child with agenesis of the corpus callosum and tetralogy of Fallot, and review. Am J Med Genet 1995;56:215-8.
22. Zampino G, Di Rocco C, Butera G, Balducci F, Colosimo C, Torrioli MG, Mastroiacovo P. Opitz C trigonocephaly syndrome and midline brain anomalies. Am J Med Genet 1997;73:484-8.
23. Nacarkucuk E, Okan M, Sarimehmet H, Ozer T. Opitz trigonocephaly C syndrome associated with hearing loss. Pediatr Int 2003;45:731-3.
24. Luebke JI, Dunlap K, Turner TJ. Multiple calcium channel types control glutamatergic synoptic transmission in the hippocampus. Neuron 1993;11:895-902.
25. 2+ channel types coexist to regulate synaptosomal neurotransmitter release. Proc Natl Acad Sci USA 1993;90:9518-22.
26. 2+ channel toxins. Eur J Pharmacol 1993;238:383-6.
27. v 2.2) of N-type calcium channels. Proc Natl Acad Sci USA 2001;98:5323-8.
28. Mochida GH, Walsh CA. Molecular genetics of human microcephaly. Curr Opin Neurol 2001;14:151-6.
29. Woods CG. Human microcephaly. Curr Opin Neurobiol 2004;14:112-7.
30. Kleefstra T, Smidt M, Banning MJG, Oudakker AR, van Esch H, de Brouwer APM, Nillesen W, Sistermans EA, Hamel BCJ, de Bruijn D, Fryns J-P, Yntema HG, Brunner HG, de Vries BBA, van Bokhoven H. Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. J Med Genet 2005;42:299-306.
31. Kleefstra T, Yntema HG, Oudakker AR, Banning MJG, Kalscheuer VM, Chelly J, Moraine C, Ropers H-H, Fryns J-P, Janssen IM, Sistermans EA, Nillesen WN, de Vries LBA, Hamel BCJ, van Bokhoven H. Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation. J Med Genet 2004;41:394-9.
32. Yeh W-C, Shahinian A, Speiser D, Kraunus J, Billia F, Wakeham A, de la Pompa JL, Ferrick D, Hum B, Iscove N, Ohashi P, Rothe M, Goeddel DV, Mak TW. Early lethality, functional NF-κB activation, and increased sensitivity to TNF-induced cell death in TRAF2-deficient mice. Immunity 1997;7:715-25.
33. Miura K, Acierno JS Jr, Seminara SB. Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH). J Hum Genet 2004;49:265-8.