Chromosome deletions in 13q33-34: Report of four patients and review of the literature

American Journal of Medical Genetics, Part A

Volumn 146, Issue 3, 2008, Pages 337-342

  Walczak Sztulpa, Joanna ^a   Wisniewska, Marzena ^b   Latos Bielenska, Anna ^b   Linné, Maja ^c   Kelbova, Christina ^c   Belitz, Britta ^d   Pfeiffer, Lutz ^d   Kaischeuer, Vera ^a   Erdogan, Fikret ^a   Kuss, Andreas W ^a   Ropers, Hans Hilger ^a   Ullmann, Reinhard ^a   Tzschach, Andreas ^a  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^c Practice of Human Genetics   (Germany)

^d Medical Practice   (Germany)

Author keywords

ARHGEF7; Array CGH; Deletion 13q33 34; EFNB2; Mental retardation; Microcephaly

Indexed keywords

ADULT; ARHGEF7 GENE; ARTICLE; CASE REPORT; CHILD; CHROMOSOME DELETION; CHROMOSOME DELETION 13; CHROMOSOME DELETION 13Q; CYTOGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE INSERTION; GENITAL MALFORMATION; HUMAN; HUMAN CELL; HYPOSPADIAS; KARYOTYPE; MALE; MENTAL DEFICIENCY; MICROCEPHALY; PHENOTYPE; PRIORITY JOURNAL;

ADULT; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 13; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; KARYOTYPING; MALE; MENTAL RETARDATION; MICROCEPHALY;

EID: 38949205714     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32127     Document Type: Article

References (18)

1. Ballarati L, Rossi E, Bonati MT, Gimelli S, Maraschio P, Finelli P, Giglio S, Lapi E, Bedeschi MF, Guerneri S, Arrigo G, Patricelli MG, Mattina T, Guzzardi O, Pecile V, Police A, Scarano G, Larizza L, Zuffardi O, Giardino D. 2007. 13q deletion and central nervous system anomalies: Further insights from karyotype-phenotype analyses of 14 patients. J Med Genet 44:e60.
2. Brown S, Gersen S, Anyane-Yeboa K, Warburton D. 1993. Preliminary definition of a "critical region" of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature. Am J Med Genet 45:52-59.
3. Brown S, Russo J, Chitayat D, Warburton D. 1995. The 13q-syndrome: The molecular definition of a critical deletion region in band 13q32. Am J Hum Genet 57:859-866.
4. Chen W, Erdogan F, Ropers HH, Lenzner S, Ullmann R. 2005. CGHPRO - A comprehensive data analysis tool for array CGH. BMC Bioinform 6:85.
5. Erdogan F, Chen W, Kirchhoff M, Kaischeuer V, Hultschig C, Mueller I, Schulz R, Menzel C, Bryndorf T, Ropers HH, Ullmann R. 2006. Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation. Cytogenet Genome Res 115:247-253.
6. Guala A, Dellavecchia C, Mannarino S, Rognone F, Giglio S, Minelli A, Danesino C. 1997. Ring chromosome 13 with loss of the region D13S317-D13 S285:phenotypic overlap with XK syndrome. Am J Med Genet 72:319-323.
7. Harvey K, Duguid IC, Alldred MJ, Beatty SE, Ward H, Keep NH, Lingenfelter SE, Pearce BR, Lundgren J, Owen MJ, Smart TG, Luscher B, Rees MI, Harvey RJ. 2004. The GDP-GTP exchange factor collybistin: An essential determinant of neuronal gephyrin clustering. J Neurosci 24:5816-5826.
8. Kutsche K, Yntema H, Brandt A, Jantke I, Nothwang HG, Orth U, Boavida MG, David D, Chelly J, Fryns JP, Moraine C, Ropers HH, Hamel BC, van Bokhoven H, Gal A. 2000. Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Nat Genet 26:247-250.
9. Lohmann DR, Gallie BL. 2004. Retinoblastoma: Revisiting the model prototype of inherited cancer. Am J Med Genet Part C Semin Med Genet 129C:23-28.
10. Luo J, Balkin N, Stewart JF, Sarwark JF, Charrow J, Nye JS. 2000. Neural tube defects and the 13q deletion syndrome: Evidence for a critical region in 13q33-34. Am J Med Genet 91:227-230.
11. Luquet I, Favre B, Nadal N, Madinier N, Khau Van Kien P, Huet F, Nivelon-Chevallier A, Mugneret F. 1999. Two cases of terminal deletion of chromosome 13: Clinical features, conventional and molecular cytogenetic analysis. Ann Genet 42:33-39.
12. Mucke J, Sandig KR, Trautmann U. 1983. 13q syndrome-partial monosomy of the long arm of chromosome 13. Klin Padiatr 195:361-364.
13. Poliakov A, Cotrina M, Wilkinson DG. 2004. Diverse roles of eph receptors and ephrins in the regulation of cell migration and tissue assembly. Dev Cell 7:465-480.
14. Stoll C, Alembik Y. 1998. A patient with 13q-syndrome with mild mental retardation and with growth retardation. Ann Genet 41:209-212.
15. Turleau C, Seger J, de Grouchy J, Dore F, Job JC. 1978. Del (13) (q33). Exclusion of esterase D (ESD) from 13q33 and q34. Ann Genet 21:189-192.
16. Vats KR, Ishwad C, Singla I, Vats A, Ferrell R, Ellis D, Moritz M, Surti U, Jayakar P, Frederick DR, Vats AN. 2006. A locus for renal malformations including vesico-ureteric reflux on chromosome 13q33-34. J Am Soc Nephrol 17:1158-1167.
17. Walsh LE, Vance GH, Weaver DD. 2001. Distal 13q Deletion Syndrome and the VACTERL association: Case report, literature review, and possible implications. Am J Med Genet 98:137-144.
18. Wirth J, Nothwang HG, van der Maarel S, Menzel C, Borck G, Lopez-Pajares I, Brondum-Nielsen K, Tommerup N, Bugge M, Ropers HH, Haaf T. 1999. Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: Cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes. J Med Genet 36:271-278.