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Volumn 51, Issue 4, 2008, Pages 368-372

A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay

Author keywords

15q14; ACTC; Array CGH; CHRNA7; Cleft palate; Developmental delay; Epilepsy; Interstitial 15q deletion; Mental retardation; Ventricular septal defect

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOMAL LOCALIZATION; CHROMOSOME 15Q; CHROMOSOME DELETION; CLEFT PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DEVELOPMENTAL DISORDER; EPILEPSY; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HUMAN TISSUE; LANGUAGE DISABILITY; MALE; MENTAL DEFICIENCY; SINGLE NUCLEOTIDE POLYMORPHISM; SPEECH DISORDER;

EID: 47549091938     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.02.011     Document Type: Article
Times cited : (21)

References (12)
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    • Autio, S.1    Pihko, H.2    Tengström, C.3
  • 4
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    • Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay
    • Erdogan F., Ullmann R., Chen W., Schubert M., Adolph S., Hultschig C., Kalscheuer V., Ropers H.-H., Spaich C., and Tzschach A. Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay. Am. J. Med. Genet. 143A (2007) 172-178
    • (2007) Am. J. Med. Genet. , vol.143 A , pp. 172-178
    • Erdogan, F.1    Ullmann, R.2    Chen, W.3    Schubert, M.4    Adolph, S.5    Hultschig, C.6    Kalscheuer, V.7    Ropers, H.-H.8    Spaich, C.9    Tzschach, A.10
  • 11
    • 0029028922 scopus 로고
    • Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q
    • Tonk V., Wyandt H.E., Osella P., Skare J., Wu B.L., Haddad B., and Milunsky A. Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q. Clin. Genet. 48 (1995) 151-155
    • (1995) Clin. Genet. , vol.48 , pp. 151-155
    • Tonk, V.1    Wyandt, H.E.2    Osella, P.3    Skare, J.4    Wu, B.L.5    Haddad, B.6    Milunsky, A.7
  • 12
    • 0042632663 scopus 로고    scopus 로고
    • Molecular characterization of a unique de novo 15q deletion associated with Prader-Willi syndrome and central visual impairment
    • Windpassinger C., Petek E., Wagner K., Langmann A., Buiting K., and Kroisel P.M. Molecular characterization of a unique de novo 15q deletion associated with Prader-Willi syndrome and central visual impairment. Clin. Genet. 63 (2003) 297-302
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    • Windpassinger, C.1    Petek, E.2    Wagner, K.3    Langmann, A.4    Buiting, K.5    Kroisel, P.M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.