A gene dosage map of Chromosome 18: A map with clinical utility

Genetics in Medicine

Volumn 11, Issue 11, 2009, Pages 778-782

  Cody, Jannine D ^a   Carter, Erika M ^a   Sebold, Courtney ^a   Heard, Patricia L ^a   Hale, Daniel E ^a  

^a UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

Author keywords

Chromosome 18; Chromosome abnormality; Chromosome deletions; Gene dosage; Haploinsuffi ciency

Indexed keywords

ARTICLE; CHROMOSOME 18; CHROMOSOME DELETION; CHROMOSOME MAP; DIAGNOSTIC VALUE; GENE DOSAGE; GENETIC COUNSELING; HAPLOTYPE; HUMAN; PENETRANCE; PHENOTYPE;

CHROMOSOME ABERRATIONS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 18; GENE DELETION; GENE DOSAGE; HUMANS; SYNDROME;

EID: 73849099307     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181b6573d     Document Type: Article

References (13)

1. Horbinski C, Carter EM, Heard PL, et al. Molecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication. Am J Med Genet 2008;22:2898-2904.
2. Heard P, Carter E, Crandall A, Sebold C, Hale DE, Cody JD. High resolution genomic analysis of 18q-using oligo-microarray comparative genomic hybridization (aCGH). Am J Med Genet A 2009;149:1431-1437.
3. Schaub RL, Reveles XT, Baillargeon JG, Leach RJ, Cody JD. Molecular characterization of 18p deletions: identification of a breakpoint cluster. Genet Med 2002;4:15-19.
4. Stankiewicz P, Brozek I, Hélias-Rodzewicz Z, et al. Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18. Am J Med Genet 2001;101:226-239.
5. Kent WJ, Sugnet CW, Furey TS, et al. The human genome browser at UCSC. Genome Res 2002;12:996-1006.
6. Cody JD, Heard P, Crandall AC, et al. Narrowing critical regions and determining penetrance for selected 18q-phenotypes. Am J Med Genet A 2009;149:1421-1430.
7. Zweier C, Peippo MM, Hoyer J, et al. Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet 2007;80:994-1001.
8. Iafrate AJ, Feuk L, Rivera MN, et al. Detection of large-scale variation in the human genome. Nature 2004;36:949-951.
9. Inoue K, Dewar K, Katsanis N, et al. The 1.4-Mb CMT1A duplication/ HNPP deletion genomic region reveals unique genome architectural features and provided insights into the recent evolution of new genes. Genome Res 2001;11:1018-1033.
10. Wilke AOM. The molecular basis of dominance. J Med Genet 1994;31:89-98.
11. Nusbaum C, Zody MC, Borowsky ML, et al. DNA sequence and analysis of human chromosome 18. Nature 2005;437:551-555.
12. Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V. Holo-prosencephaly. Orphanet J Rare Dis 2007;2:8.
13. Nielson J, Wohlert M. Chromosome abnormalities found among 34910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet 1991;87:81-83.