Interstitial deletion of 5q33.3q35.1 in a girl with mild mental retardation

American Journal of Medical Genetics

Volumn 93, Issue 2, 2000, Pages 107-109

  Spranger, Stephanie ^a   Rommel, Birgit ^a   Jauch, Anna ^b   Bodammer, Robert ^c   Mehl, Burkhard ^c   Bullerdiek, Joern ^a  

^a UNIVERSITY OF BREMEN   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c Ctr Neuropediatrics Social Pediat   (Germany)

Author keywords

Chromosome 5; De novo deletion; Mild mental retardation

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 5Q; CHROMOSOME ABERRATION; FACE MALFORMATION; FEMALE; GENE DELETION; HUMAN; MENTAL DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SEIZURE;

ADULT; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 5; CYTOGENETIC ANALYSIS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MENTAL RETARDATION;

EID: 0034679902     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20000717)93:2<107::AID-AJMG5>3.0.CO;2-8     Document Type: Article

References (15)

1. Bodmer WF, Bailey CJ, Bodmer J, Bussey HJR, Ellis A, German P, Lucihello FC, Murday VA, Rider SH, Scambler P, Sheer D, Solomon E, Spurr NK. 1987. Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature 32:614-616.
2. De Michelena MI, Villacorta J, Chavez J. 1990. Double chromosome anomaly: interstitial deletion 5q and reciprocal translocation (1;11) (p22;q21). Am J Med Genet 36:29-32.
3. Harprecht-Beato W, Kaiser P, Steuber E. 1983. Interstitial deletion in the long arm of chromosome no5. Clin Genet 23:167-171.
4. Huebner K, Nagarajan L, Besa E, Angert E, Lange BJ, Cannizzaro LA, Van den Berghe H, Santoli D, Finan J, Croce CM, Nowell PC. 1990. Order of genes on human chromosome 5q with respect to 5q interstitial deletions. Am J Human Genet 46:26-36.
5. Hulander M, Wurst W, Carlsson P, Enerback S. 1998. The winged helix transcription factor Fkh 10 is required for normal development of the inner ear. Nat Genet 20:374-376.
6. Kramer RL, Feldman B, Ebrahim SA, Kasperski SB, Johnson MP, Evans MI. 1999. Molecular cytogenetic analysis of a de novo 5q31q33 deletion associated multiple congenital anomalies: case report. Am J Med Genet 82:143-145.
7. Krishna J, Myers TL, Bourgeois MJ, Tonk V. 1997. Interstitial deletion of long arm of chromosome no.5 with growth hormone deficiency: an emerging syndrome? Clin Genet 51:48-51.
8. Lichter P, Cremer T. 1992. Chromosome analysis by non-isotopic in situ hybridization. In: Rooney DE, Czepulkowski BH, eds. Human cytogenetics: a practical approach. Vol. F. 2d ed. Oxford: IRL Press, p 157-192.
9. Rodewald A, Zankl M, Sitzmann FC, Zang KD. 1982. Interstitial de novo deletion of the long arm of chromosome 5: mapping of 5q bands associated with particular malformation. Clin Genet 22:226-230.
10. Russek SJ, Farb DH. 1994. Mapping of the beta 2 subunit gene (GABRB2) to microdissected human chromosome 5q34-q35 defines a gene cluster for the most abundant GABAA receptor isoform. Genomics 23:528-533.
11. Silengo MC, Luzzatti L, Centerwall WR, Costello JM, Parslow M. 1981. Interstitial deletion of the long arm of chromosome no. 5 in two unrelated children with congenital anomalies and mental retardation. Clin Genet 19:174-180.
12. Solomon E, Voss R, Hall V, Bodmer WF, Jass JR, Jeffreys AJ, Lucibello FC, Patel I, Rider SH. 1987. Chromosome 5 allele loss in human colorectal carcinomas. Nature 328:616-619.
13. Stoll C, Levy JM, Roth MP. 1980. Interstitial deletion of the long arm of chromosome 5 in a deformed boy: 46,XY,del(5)(q13q15). J Med Genet 17:486-487.
14. Turbay D, Wechsler SB, Blanchard KM, Izumo S. 1996. Molecular cloning, chromosomal mapping, and characterization of the human cardiacspecific homeobox gene hCsx. Mol Med 2:86-96.
15. Van den Berghe H, Vermaelen K, Mecucci C, Barbieri D, Tricot G.1985. The 5q anomaly. Cancer Genet Cytogenet 17:189-255.