An update on chromosome deletion and microdeletion syndromes

Current Opinion in Pediatrics

Volumn 10, Issue 6, 1998, Pages 622-627

  Shapira, Stuart K ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME 1; CHROMOSOME 10P; CHROMOSOME 11P; CHROMOSOME 11Q; CHROMOSOME 17P; CHROMOSOME 2Q; CHROMOSOME 4P; CHROMOSOME 5P; CHROMOSOME 6P; CHROMOSOME 7Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DELETION 4; CHROMOSOME DELETION 5; DEVELOPMENTAL DISORDER; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC DISORDER; HUMAN; INFANT; MOLECULAR GENETICS; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SYNDROME;

EID: 0031782244     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008480-199810060-00015     Document Type: Review

References (33)

1. Albrecht U, Sutcliffe JS, Cattanach BM, Beechey CV, Armstrong D, Eichele G, Beaudet AL: Imprinted expression of the murine Angelman syndrome gene UBE3A in hippocampal and Purkinje neurons. Nat Genet 1997, 17:75-78.
2. Budarf ML. Emanuel BS: Progress in the autosomal segmental aneusomy syndromes (SASs): single or multi-locus disorders? Hum Molec Genet 1997, 6:1657-1665.
3. Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, et al.: Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 1997, 16:243-251.
4. Oda T, Elkahooun AG, Pike BL, Okajima K, Krantz ID, Genin A, et al.: Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet 1997, 16:235-242.
5. Ewart A, Morris CA, Atkinston D, Jin W, Sternes K, Spallone P, et al.: Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 1993, 5:11-16.
6. Ewart AK, Jin W, Atkinson D, Morris CA, Keating MT: Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. J Clin Invest 1994, 93:1071-1077.
7. Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FFB, Sutton VR, et al.: Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet 1997, 61:642-650.
8. Shapira SK, Wu Y-Q, Chedrawi A, Tharp B, Kirkland JL, Stal S, et al.: Chromosome 1p36 deletion syndrome: expanding the clinical phenotype and phenotype-genotype correlations. Syllabus. American College of Medical Genetics 5th Annual Meeting; 1998, 5:A28.
9. Wilson LC, Leverton K, Oude Luttikhusi MEM, Oley CA, Flint J, Wolstenholme J, et al.: Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. Am J Hum Genet 1995, 56:400-407.
10. Estabrooks LL, Breg WR, Hayden MR, Ledbetter DH, Myers RM, Wyandt HE, et al.: Summary of the 1993 ASHG ancillary meeting "recent research on chromosome 4p syndromes and genes". Am J Med Genet 1995, 55:453-58.
11. Chitayat D, Ruvalcaba RHA, Babul R, Teshima IE, Posnick JC, Vekemans MJJ, et al.: Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature. Am J Med Genet 1995, 55:147-154.
12. Overhauser J, Huang X, Gersh M, Wilson W, McMahon J, Bengtsson U, et al.: Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. Hum Molec Genet 1994, 3:247-252.
13. Gersh M, Goodart SA, Pasztor LM, Harris DJ, Weiss L, Overhauser J: Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. Am J Hum Genet 1995, 56:1404-1410.
14. Simmons AD, Overhauser J, Lovett M: Isolation of cDNAs from the cri-duchat critical region by direct screening of a chromosome 5-specific cDNA library. Genome Res 1997, 7:118-127.
15. Davies AF, Olavesen MG, Stephens RJ, Davidson R, Delneste D, van Regemorter N, et al.: A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome. Hum Genet 1996, 98:454-459.
16. Thomas JA, Graham JM: Chromosome 22q11 deletion syndrome: an update and review for the primary pediatrician. Clin Pediatr 1997, 253-266.
17. Shapira M, Borochowitz Z, Bar-El H, Dar H, Etzioni A, Lorber A: Deletion of the short arm of chromosome 10 (10p13): report of a patient and review. Am J Med Genet 1994, 52:34-38.
18. Schuffenhauer S, Seidel H, Oechsler H, Belohradsky B, Bernsau U, Murken J, Meitinger T: DiGeorge syndrome and partial monosomy 10p: case report and review. Ann Genet 1995, 38:162-167.
19. Potocki L, Shaffer LG: Interstitial deletion of 11 (p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2). Am J Med Genet 1996, 62:319-325.
20. Ligon AH, Potocki L, Shaffer LG, Stickens D, Evans GA: Gene for multiple exostoses (EXT2) maps to 11 (p11.2p12) and is deleted in patients with a contiguous gene syndrome. Am J Med Genet 1998, 75:538-540.
21. Ono J, Harada K, Hasegawa T, Sakurai K, Kodaka R, Tanabe Y, et al.: Central nervous system abnormalities in chromosome deletion at 11 q23. Clin Genet 1994, 45:325-329.
22. Jones C, Slijepcevic P, Marsh S, Baker E, Langdon WY, Richards RI, Tunnacliffe A: Physical linkage of the fragile site FRA11B and a Jacobson syndrome chromosome deletion breakpoint in 11q23.3. Hum Molec Genet 1994, 3:2123-2130.
23. Jones C, Penny L, Mattina T, Yu S, Baker E, Voullalre L, et al.: Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2. Nature 1995, 376:145-149.
24. Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, Dobyns WB, et al.: Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit like repeats. Nature 1993, 364:717-721.
25. Hattori M, Adachi H, Tsujimoto M, Arai H, Inoue K: Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor. Nature 1994, 370:216-218.
26. Chong SS, Pack SD, Roschke AV, Tanigami A, Carrozzo R, Smith ACM, et al.: A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum Molec Genet 1997, 6:147-155.
27. Chen K-S, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, et al.: Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet 1997, 17:154-163.
28. Dutly F, Schinzel A: Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. Hum Molec Genet 1996, 5:1893-1898.
29. Robinson WP, Waslynka J, Bernasconi F, Wang M, Clark S, Kotzot D, Schinzel A: Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion. Genomics 1996, 34:17-23.
30. Osborne LR, Soder S, Herbnck J-A, Pober B, Costa T, Shi X-M, et al.: Characterization of the Williams syndrome deletion region on chromosome 7q11.23. Am J Hum Genet Suppl 1997, 61(suppl):A39.
31. Christian SL, Martin SA, Fantes J, Bhatt NK, Huang B, Ledbetter DH: Identification of a large duplicated gene cluster region at the common deletion breakpoints of Prader-Willi and Angelman syndromes. Am J Hum Genet Suppl 1997, 61:A7.
32. Morrow BE, Edelmann L, Ferreira J, Pandita RK, Carlson CG, Procter JE, et al.: A duplication on chromosome 22q11 is the basis for the common deletion that occurs in velo-cardio-facial syndrome patients. Am J Hum Genet Suppl 1997, 61:A7.
33. Ligon AH, Beuadet AL, Shaffer LG: Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation. Am J Hum Genet 1997, 61:51-59.