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Volumn 66, Issue 2, 1996, Pages 193-196

Mosaicism for del(17)(p11.2p11.2) Underlying the Smith-Magenis syndrome

Author keywords

chromosome17p11.2; del(17)(p11.2p11.2); FISH; mosaicism; Smith Magenis syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 17P; CHROMOSOME DELETION; CHROMOSOME MOSAICISM; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; MENTAL DEFICIENCY; PRIORITY JOURNAL; SMITH MAGENIS SYNDROME;

EID: 0030457045     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961211)66:2<193::AID-AJMG13>3.0.CO;2-O     Document Type: Article
Times cited : (21)

References (24)
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  • 2
    • 0021356696 scopus 로고
    • Deletion of chromosome 15 (q11-13) in a Prader-Labhart-Willi syndrome clinic population
    • Cassidy SB, Thuline HC, Holm VA (1984): Deletion of chromosome 15 (q11-13) in a Prader-Labhart-Willi syndrome clinic population. Am J Med Genet 17:485-495.
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    • Cassidy, S.B.1    Thuline, H.C.2    Holm, V.A.3
  • 7
    • 0029002805 scopus 로고
    • Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24-q27.1
    • Figuera LE, Pandolfo M, Dunne PW, Cantú JM, Patel PI (1995): Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24-q27.1. Nature Genet 10:202-207.
    • (1995) Nature Genet , vol.10 , pp. 202-207
    • Figuera, L.E.1    Pandolfo, M.2    Dunne, P.W.3    Cantú, J.M.4    Patel, P.I.5
  • 9
    • 0027399978 scopus 로고
    • Mosaicism for deletion 17p11.2 in a boy with the Smith-Magenis syndrome
    • Finucane BM, Kurtz MB, Babu VR, Scott CI Jr. (1993b): Mosaicism for deletion 17p11.2 in a boy with the Smith-Magenis syndrome. Am J Med Genet 45:447-449.
    • (1993) Am J Med Genet , vol.45 , pp. 447-449
    • Finucane, B.M.1    Kurtz, M.B.2    Babu, V.R.3    Scott Jr., C.I.4
  • 11
    • 0027414162 scopus 로고
    • 18q-mosaicism associated with Rett syndrome phenotype
    • Gordon K, Siu VM, Sergovich F, Jung J (1993): 18q-mosaicism associated with Rett syndrome phenotype. Am J Med Gen 46:142-144.
    • (1993) Am J Med Gen , vol.46 , pp. 142-144
    • Gordon, K.1    Siu, V.M.2    Sergovich, F.3    Jung, J.4
  • 17
    • 0019913479 scopus 로고
    • Deletion of 13q in two patients with retinoblastoma, one probably due to 13q-mosaicism in the mother
    • Michalová K, Kloucek F, Musilová J (1982): Deletion of 13q in two patients with retinoblastoma, one probably due to 13q-mosaicism in the mother. Hum Genet 61:264-266.
    • (1982) Hum Genet , vol.61 , pp. 264-266
    • Michalová, K.1    Kloucek, F.2    Musilová, J.3
  • 19
    • 0001403971 scopus 로고
    • Deletion of the 17 short arm in two patients with facial clefts and congenital heart disease
    • Smith ACM, McGavran L, Waldstein G, Robinson J (1982): Deletion of the 17 short arm in two patients with facial clefts and congenital heart disease. Am J Hum Genet 34:410A.
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  • 22
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    • Somatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy
    • Voit T, Neuen-Jacob E, Mahler V, Jauch A, Cremer M (1992): Somatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy. Eur J Ped 151:112-116.
    • (1992) Eur J Ped , vol.151 , pp. 112-116
    • Voit, T.1    Neuen-Jacob, E.2    Mahler, V.3    Jauch, A.4    Cremer, M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.