Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay

Journal of Human Genetics

Volumn 55, Issue 8, 2010, Pages 486-489

  Ji, Taoyun ^a   Wu, Ye ^a   Wang, Huifang ^a   Wang, Jingmin ^a   Jiang, Yuwu ^a  

^a PEKING UNIVERSITY   (China)

Author keywords

11q deletion; Jacobsen syndrome; JBS

Indexed keywords

ARTICLE; BRAIN MALFORMATION; CASE REPORT; CHILD; CHINA; CHINESE; CHROMOSOME 11Q; CHROMOSOME ABERRATION; COMPARATIVE STUDY; CONGENITAL HEART DISEASE; DISEASE SEVERITY; EUROPE; FACE MALFORMATION; FEMALE; GENE; GENE DELETION; GENE MAPPING; GENOTYPE; GROWTH RETARDATION; HUMAN; INFANT; JACOBSEN SYNDROME; LOW BIRTH WEIGHT; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NCAPD3 GENE; NORTH AMERICA; NTM GENE; OPCML GENE; PRESCHOOL CHILD; SNX19 GENE; TELOMERE; THYN1 GENE;

CHILD, PRESCHOOL; CHINA; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; DEVELOPMENTAL DISABILITIES; FEMALE; GENOTYPE; HUMANS; INFANT; JACOBSEN DISTAL 11Q DELETION SYNDROME; MALE; NUCLEIC ACID AMPLIFICATION TECHNIQUES; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 77957561260     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.51     Document Type: Article

References (19)

1. Jacobsen, P., Hauge, M., Henningsen, K., Hobolth, N., Mikkelsen, M. & Philip, J. An (11; 21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study. Hum. Hered. 23, 568-585 (1973).
2. Penny, L. A., Dell'Aquila, M., Jones, M. C., Bergoffen, J., Cunnif, C., Fryns, J. P. et al. Clinical and molecular characterization of patients with distal 11q deletion. Am. J. Hum. Genet. 56, 676-683 (1995).
3. Grossfeld, P. D., Mattina, T., Lai, Z., Favier, R., Jones, K. L., Cotter, F. et al. The 11q terminal deletion disorder: a prospective study of 110 cases. Am. J. Med. Genet. 129A, 51-61 (2004).
4. Pivnick, E. K., Velagaleti, G. V., Wilroy, R. S., Smith, M. E., Rose, M. E., Tipton, R. E. et al. Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypotiroidism associated with deletion 11 (q23q25) and review of 52 cases. J. Med. Genet. 33, 772-778 (1996).
5. Niikawa, N., Jinno, Y., Tomiyasu, T., Kukushima, Y. & Kudo, K. Ring chromosome 11 [(46, XX, r (11) (p15q25)] associated with clinical features of the 1 1q-syndrome. Ann. Genet. 24, 172-175 (1981).
6. Cousineau, A. J., Higgins, J. V., Scott-Emaukpor, A. B. & Mody, G. Brief clinical report: ring-11 chromosome: phenotype-karyotype correlation with deletions of llq. Am. J. Med. Genet. 14, 29-35 (1983).
7. Voullaire, L. E., Webb, G. C. & Leversha, M. A. Chromosome deletion at 11q23 in an abnormal child from a family with inherited fragility at 11q23. Hum. Gene. 76, 202-204 (1987).
8. Edelmann, L., Spiteri, E., McCain, N., Goldberg, R., Pandita, R. K., Duong, S. et al. A common breakpoint on 11q23 in carriers of the constitutional t (11, 22) translocation. Am. J. Hum. Genet. 65, 1608-1616 (1999).
9. Kurahashi, H., Shaikh, T. H., Zackai, E. H., Celle, L., Driscoll, D. A., Budarf, M. L. et al. Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t (11;22). Am. J. Hum. Genet. 67, 763-768 (2000).
10. Giglio, S., Broman, K. W., Matsumoto, N., Calvari, V., Gimelli, G., Neumann, T. et al. Olfactory receptor gene clusters, genomicinversion polymorphism, and common chromosome rearrangements. Am. J. Hum. Genet. 68, 874-883 (2001).
11. Shen, Y. & Wu, B L. Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome. J. Genet. Genomics. 36, 257-265 (2009).
12. Mattina, T., Perrotta, C S. & Grossfeld, P. Jacobsen syndrome. Orphanet. J. Rare. Dis. 4, 9 (2009).
13. Fryns, J P., Kleczkowska, A., Buttiens, M., Marien, P. & vanden Berghe, H. Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1. Clinical. Genetics. 30, 255-260 (1986).
14. Coldren, C. D., Lai, Z., Shragg, P., Rossi, E., Glidewell, S. C., Zuffardi, O. et al. Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioural defects in the 11q terminal deletion disorder (Jacobsen syndrome). Neurogenetics. 10, 89-95 (2009).
15. Neavel, C. B. & Soukup, S. Deletion of (11) (q24.2) in a mother and daughter with similar phenotypes. Am. J. Med. Genet. 53, 321-324 (1994).
16. Böhm, D., Hoffmann, K., Laccone, F., Wilken, B., Dechent, P., Frahm, J. et al. Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion. Am. J. Med. Genet. 140, 378-382 (2006).
17. Yamamoto, S., Oka, S., Inoue, M., Shimuta, M., Manabe, T., Takahashi, H. et al. Mice deficient in nervous system-specific carbohydrate epitope HNK-1 exhibit impaired synaptic plasticity and spatial learning. J. Biol. Chem. 277, 27227-27231 (2002).
18. Krasner, A., Wallace, L., Thiagalingam, A., Jones, C., Lengauer, C., Minahan, L. et al. Cloning and chromosomal localization of the human BARX2 homeobox protein gene. Gene. 250, 171-180 (2000).
19. Ye, M., Coldren, C., Liang, X., Mattina, T., Goldmuntz, E., Benson, D. W. et al. Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. Hum. Mol. Genet. 19, 648-656 (2010).