Familial 22q11.2 deletions in DiGeorge/velocardiofacial syndrome are predominantly smaller than the commonly observed 3Mb

Genetics in Medicine

Volumn 6, Issue 6, 2004, Pages 517-520

  Adeyinka, Adewale ^a   Stockero, Kimberly J ^a   Flynn, Heather C ^a   Lorentz, Cindy P ^a   Ketterling, Rhett P ^a   Jalal, Syed M ^a  

^a MAYO CLINIC   (United States)

Author keywords

DiGeorge velocardiofacial syndrome; Familial deletion 22q11.2; Predominantly small deletions

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 22Q; CLINICAL ARTICLE; CYTOGENETICS; DIGEORGE SYNDROME; DISEASE TRANSMISSION; FAMILIAL DISEASE; FAMILY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE FREQUENCY; HUMAN; HYPOTHESIS; MALE; NEWBORN; NUCLEOTIDE SEQUENCE; VELOCARDIOFACIAL SYNDROME;

CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; FAMILY; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE;

BACTERIA (MICROORGANISMS); MARTES PENNANTI;

EID: 9644270486     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.GIM.0000144011.97407.B6     Document Type: Article

References (16)

1. Spiteri E, Babcock M, Kashork CD, Wakui K, Gogineni S, Lewis DA et al. Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes. Hum Mol Genet 2003;12:1823-1837.
2. Ensenauer RE, Adeyinka A, Flynn HC, Michels VV, Lindor NM, Dawson DB et al. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 2003;73:1027-1040.
3. Shaffer LG, Lupskj JR. Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet 2000;34:297-329.
4. Botto LD, May K, Fernhoff PM, Correa A, KC, Rasmussen SA et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 2003;112:101-107.
5. Kato T, Kosaka K, Kimura M, Imamura S, Yamada O, Iwai K et al. Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-beta. Genet Med 2003;5:113-119.
6. Carlson C, Sirotkin H, Pandita R, Goldberg R, McKie J, Wadey R et al. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet 1997;61:620-629.
7. Edelmann L, Pandita RK, Spiteri E, Funke B, Goldberg R, Palanisamy N et al. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet 1999;8:1157-1167.
8. Edelmann L, Pandita RK, Morrow BE. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am J Hum Genet 1999; 64:1076-1086.
9. Shaikh TH, Kurahashi H, Emanuel BS. Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review. Genet Med 2001;3:6-13.
10. McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, Finucane B, Driscoll DA, Emanuel BS et al. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med 2001;3:23-29.
11. Brewer C, Holloway S, Zawalnyski P, Schinzel A, Fitzpatrick D. A chromosomal deletion map of human malformations. Am J Hum Genet 1998;63:1153-1159.
12. Brewer C, Holloway S, Zawalnyski P, Schinzel A, FitzPatrick D. A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality- and tolerance of segmental aneuploidy-in humans. Am J Hum Genet 1999;64:1702-1708.
13. Saitta SC, Harris SE, Gaeth AP, Driscoll DA, McDonald-McGinn DM, Maisenbacher MK et al. Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Hum Mol Genet 2004;13:417-428.
14. Yamagishi H, Srivastava D. Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome. Trends Mol Med 2003;9:383-389.
15. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997;34:798-804.
16. Desmaze C, Prieur M, Amblard F, Aikem M, LeDeist F, Demczuk S et al. Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases. Am J Hum Genet 1993;53:1239-1249.