A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2

American Journal of Medical Genetics

Volumn 140 A, Issue 8, 2006, Pages 873-877

  Klopocki, Eva ^a   Fiebig, Britta ^a   Robinson, Peter ^a   Tönnies, Holger ^a   Erdogan, Fikret ^b   Ropers, Hans Hilger ^b   Mundlos, Stefan ^a   Ullmann, Reinhard ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

8p; Array CGH; Interstitial deletion

Indexed keywords

GLUTATHIONE REDUCTASE; GONADORELIN; NEU DIFFERENTIATION FACTOR; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR EBF2; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; CHROMOSOMAL LOCALIZATION; CHROMOSOME 8P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DNA MICROARRAY; FACE DYSMORPHIA; FEMALE; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HIGH RISK PATIENT; HUMAN; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER;

BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 8; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETIC ANALYSIS; DEVELOPMENTAL DISABILITIES; DNA; EYE ABNORMALITIES; FEMALE; HUMANS; INFANT; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PERIPHERAL NERVOUS SYSTEM DISEASES;

EID: 33645575044     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31163     Document Type: Article

References (21)

1. Beighle C, Karp L, Hanson J, Hall J, Hoehn H. 1977. Small structural changes of chromosome 8. Two cases with evidence for deletion. Hum Genet 38:113-121.
2. Chen W, Erdogan F, Ropers H, Lenzner S, Ullmann R. 2005. CGHPRO-A comprehensive data analysis tool for array CGH. BMC Bioinformatics 6:85.
3. Chilcote RR, Le Beau MM, Dampier C, Pergament E, Verlinsky Y, Mohandas N, Frischer H, Rowley JD. 1987. Association of red cell spherocytosis with deletion of the short arm of chromosome 8. Blood 69:156-159.
4. Cohen H, Walker H, Delhanty JD, Lucas SB, Huehns ER. 1991. Congenital spherocytosis, B19 parvovirus infection and inherited interstitial deletion of the short arm of chromosome 8. Br J Haematol 78:251-257.
5. Corradi A, Croci L, Broccoli V, Zecchini S, Previtali S, Wurst W, Amadio S, Maggi R, Quattrini A, Consalez G. 2003. Hypogonadotropic hypogonadism and peripheral neuropathy in Ebf2-null mice. Development 130:401-410.
6. Devriendt K, Matthijs G, Dael Rv, Gewillig M, Eyskens B, Hjalgrim H, Dolmer B, McGaughran J, Bröndum-Nielsen K, Marynen P, Fryns J-P, Vermeesch J. 1999. Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. Am J Hum Genet 64:1119-1126.
7. Falls D. 2003. Neuregulins: Functions, forms, and signaling strategies. Exp Cell Res 284:14-30.
8. Fiegler H, Carr P, Douglas EJ, Burford DC, Hunt S, Scott CE, Smith J, Vetrie D, Gorman P, Tomlinson IP, Carter NP. 2003. DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAG and PAC clones. Genes Chromosomes Cancer 36:361-374.
9. Kitatani M, Chiyo H, Ozaki M, Shike S, Miwa S. 1988. Localisation of the spherocytosis gene to chromosome segment 8pll.22→8p21.1. Hum Genet 78:94-95.
10. Klein C, Schmidt-Kittler O, Schardt J, Pantel K, Speicher M, Riethmuller G. 1999. Comparative genomic hybridization, loss of heterozygosity, and DNA sequence analysis of single cells. Proc Natl Acad Sci USA 96:4494-4499.
11. Lee JS, von der Hardt S, Rusch MA, Stringer SE, Stickney HL, Talbot WS, Geisler R, Nusslein-Volhard C, Selleck SB, Chien CB, Roehl H. 2004. Axon sorting in the optic tract requires HSPG synthesis by ext2 (dackel) and extl3 (boxer). Neuron 44:947-960.
12. Lux SE, Tse WT, Menninger JC, John KM, Harris P, Shalev O, Chilcote RR, Marchesi SL, Watkins PC, Bennett V, McIntosh S, Collins FS, Francke U, Ward DC, Forget BC. 1990. Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8. Nature 345:736-739.
13. Marino B, Reale A, Gianotti A, Dallapiccola B. 1992. Nonrandom association of atrioventricular canal and del(8p) syndrome. Am J Med Genet 42:424-427.
14. Michailov G, Sereda M, Brinkmann B, Fischer T, Haug B, Birchmeier C, Role L, Lai C, Schwab M, Nave K. 2004. Axonal neuregulin-1 regulates myelin sheath thickness. Science 304:700-703.
15. Okamoto N, Wada Y, Nakamura Y, Nakayama M, Chiyo H, Murayama K, Inoue T, Kanzaki A, Yawata Y, Hirono A, Miwa S. 1995. Hereditary spherocytic anemia with deletion of the short arm of chromosome 8. Am J Med Genet 58:225-229.
16. Orye E, Craen M. 1976. A new chromosome deletion syndrome. Report of a patient with a 46,XY,8p-chromosome constitution. Clin Genet 9:289-301.
17. Ostergaard GZ, Tommerup N. 1989. The 8p-syndrome. Ann Genet 32:87-91.
18. Seminara S, Hayes F, Crowley W. 1998. Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): Pathophysiological and genetic considerations. Endocr Rev 19:521-539.
19. Stratton R, Crudo D, Varela M, Shapira E. 1992. Deletion of the proximal short arm of chromosome 8. Am J Med Genet 42:15-18.
20. Tsukahara M, Murano I, Aoki Y, Kajii T, Furukawa S. 1995. Interstitial deletion of 8p: Report of two patients and review of the literature. Clin Genet 48:41-45.
21. Vermeulen S, Messiaen L, Scheir P, Bie SD, Speleman F, Paepe Ad. 2002. Kallman syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion. Am J Med Genet 108:315-318.