A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome

American Journal of Medical Genetics, Part A

Volumn 143, Issue 15, 2007, Pages 1692-1698

  Hill, Anthony D ^a   Chang, Bernard S ^a   Hill, R Sean ^a   Garraway, Levi A ^a,b   Bodell, Adria ^a   Sellers, William R ^a,b   Walsh, Christopher A ^a,c  

^a HARVARD MEDICAL SCHOOL   (United States)

^b BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

Deletion 1q43 1q44; Microcephaly and hypoplasia of the corpus callosum; Terminal 1q deletion syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 1Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DELETION 1Q; CHROMOSOME MAP; CLINICAL ARTICLE; FEMALE; HUMAN; MALE; MICROCEPHALY; MICROSATELLITE MARKER; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDROME DELINEATION;

ADOLESCENT; BRAIN; CHILD; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; CORPUS CALLOSUM; DNA; FEMALE; HUMANS; KARYOTYPING; MAGNETIC RESONANCE IMAGING; MALE; MICROCEPHALY; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PSYCHOMOTOR DISORDERS; SEIZURES;

EID: 34547732496     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31776     Document Type: Article

References (24)

1. Baker E, Hinton L, Callen DF, Altree M, Dobbie A, Eyre HJ, Sutherland GR, Thompson E, Thompson P, Wollatt E, Haan E. 2002. Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies. Am J Med Genet 107:285-293.
2. Bezrookove V, Hansson K, van der Burg M, van der Smagt JJ, Hilhorst-Hofstee Y, Wiegant J, Beverstock GC, Raap AK, Tanke H, Breuning MH, Rosenberg C. 2000. Individuals with abnormal phenotype and normal G-banding karyotype: Improvement and limitations in the diagnosis by the use of 24-colour FISH. Hum Genet 106:392-398.
3. Bond J, Roberts E, Springell K, Lizarraga SB, Scott S, Higgins J, Hampshire DJ, Morrison EE, Leal GF, Silva EO, Costa SM, Baralle D, Raponi M, Karbani G, Rashid Y, Jafri H, Bennett C, Corry P, Walsh CA, Woods CG. 2005. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet 37:353-355.
4. Chen CP, Chang TY, Shih JC, Lin SP, Lin CJ, Wang W, Lee CC, Town DD, Pan CW, Tzen CY. 2002. Prenatal diagnosis of the Dandy-Walker malformation and ventriculomegaly associated with partial trisomy 9p and distal 12p deletion. Prenat Diagn 22:1063-1066.
5. Chen CP, Chen CP, Shih JC. 2005. Association of partial trisomy 9p and the Dandy-Walker malformation. Am J Med Genet Part A 132A:111-112.
6. De Vries BB, Knight SJ, Homfray T, Smithson SF, Flint J, Winter RM. 2001. Submicroscopic subtelomeric 1qter deletions: A recognizable phenotype? J Med Genet 38:175-178.
7. Easton RM, Knight SJ, Homfray T, Smithson SF, Flint J, Winter RM. 2005. Role for Akt3/protein kinase Bgamma in attainment of normal brain size. Mol Cell Biol 25:1869-1878.
8. Feng Y, Walsh CA. 2004. Mitotic spindle regulation by Nde1 controls cerebral cortical size. Neuron 44:279-293.
9. Gentile MA, Di Carlo A, Volpe P, Pansini A, Nanna P, Valenzano MC, Buonadonna AL. 2003. FISH and cytogenetic characterization of a terminal chromosome 1q deletion: Clinical case report and phenotypic implications. Am J Med Genet Part A 117A:251-254.
10. Guarguaglim G, Duncan PI, Stierhof YD, Holmstrom T, Duensing S, Nigg EA. 2005. The forkhead-associated domain protein Cep170 interacts with Polo-like kinase 1 and serves as a marker for mature centrioles. Mol Biol Cell 16:1095-1107.
11. Hannam S, Greenough A, Dawson JM. 1999. An unusual presentation of trisomy 9p syndrome with a partial Dandy-Walker malformation. Eur J Pediatr 15812:1012.
12. Hathout EH, Thompson K, Baum M, Dumars KW. 1998. Association of terminal chromosome 1 deletion with Sertoli cell-only syndrome. Am J Med Genet 80:396-398.
13. Johnson VP, Heck LJ, Carter GA, Flom JO. 1985. Deletion of the distal long arm of chromosome 1: A definable syndrome. Am J Med Genet 22:685-694.
14. Juberg RC, Haney NR, Stallard R. 1981. New deletion syndrome: 1q43. Am J Hum Genet 33:455-463.
15. Kenedy AA, Cohen KJ, Loveys DA, Kato GJ, Dang CV. 2003. Identification and characterization of the novel centrosome-associated protein CCCAP. Gene 303:35-46.
16. Lin M, Wei LJ, Sellers WR, Lieberfarb M, Wong WH, Li C. 2004. dChipSNP: Significance curve and clustering of SNP-array-based loss-of-heterozygosity data. Bioinformatics 20:1233-1240.
17. Mankinen CB, Sears JW, Alvarez VT. 1976. Terminal (1)(q43) long-arm deletion of chromosome no. 1 in a three-year-old female. Birth Defects Orig Artic Ser 12:131-136.
18. Meinecke P, Vogtel D. 1987. A specific syndrome due to deletion of the distal long arm of chromosome 1. Am J Med Genet 28:371-376.
19. Potter CJ, Pedraza LG, Huang H, Xu T. 2003. The tuberous sclerosis complex (TSC) pathway and mechanism of size control. Biochem Soc Trans 31:584-586.
20. Shioi T, McMullen JR, Kang PM, Douglas PS, Obata T, Franke TF, Cantley LC, Izumo S. 2002. Akt/protein kinase B promotes organ growth in transgenic mice. Mol Cell Biol 22:2799-2809.
21. van Bever Y, Rooms L, Laridon A, Reyniers E, van Luijk R, Scheers S, Wauters J, Kooy RF. 2005. Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype. Am J Med Genet Part A 135A:91-95.
22. Verdu J, Buratovich MA, Wilder EL, Birnbaum MJ. 1999. Cell-autonomous regulation of cell and organ growth in Drosophila by Akt/PKB. Nat Cell Biol 1:500-506.
23. Villa N, Sala E, Colombo D, Dell'Orto M, Dalpra L. 2000. Monosomy and trisomy 1q44-qter in two sisters originating from a half cryptic 1q;15p translocation. J Med Genet 37:612-615.
24. Watson MS, Gargus JJ, Blakemore KJ, Katz SN, Breg WR. 1986. Chromosome deletion 1q 42-43. Am J Med Genet 24:1-6.