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Volumn 19, Issue 4, 2010, Pages 218-221

A boy with supernumerary mosaic trisomy 19q, involving 19q13.11-19q13.2, with macrocephaly, obesity and mild facial dysmorphism

Author keywords

[No Author keywords available]

Indexed keywords

THYROXINE;

EID: 77957587067     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32833bff06     Document Type: Article
Times cited : (7)

References (7)
  • 2
    • 77249127382 scopus 로고    scopus 로고
    • Dup (19) (q12q13.2): Array-based genotype-phenotype correlation of a new possibly obesity-related syndrome
    • doi:10.1038/oby.2009.298
    • Davidsson J, Jahnke K, Forsgren M, Collin A, Soller M (2009). dup (19) (q12q13.2): array-based genotype-phenotype correlation of a new possibly obesity-related syndrome. Obesity (17 September 2009) |doi:10.1038/oby.2009.298
    • (2009) Obesity
    • Davidsson, J.1    Jahnke, K.2    Forsgren, M.3    Collin, A.4    Soller, M.5
  • 3
    • 0032831340 scopus 로고    scopus 로고
    • A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect
    • Gillessen-Kaesbach G, Demuth S, Hannelore T, Ursel T, Lich C, Horsthemke B (1999). A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect. Eur J Hum Genet 7:638-644.
    • (1999) Eur. J. Hum Genet. , vol.7 , pp. 638-644
    • Gillessen-Kaesbach, G.1    Demuth, S.2    Hannelore, T.3    Ursel, T.4    Lich, C.5    Horsthemke, B.6
  • 4
    • 0027058482 scopus 로고
    • Interstitial deletion and ring chromosome derived from 19q. Proximal 19q trisomy phenotype
    • Quack B, Van Roy N, Verschraegen-Spae MR, Klein F (1992). Interstitial deletion and ring chromosome derived from 19q. Proximal 19q trisomy phenotype. Ann Genet 35:241-244.
    • (1992) Ann. Genet. , vol.35 , pp. 241-244
    • Quack, B.1    Van Roy, N.2    Verschraegen-Spae, M.R.3    Klein, F.4
  • 5
    • 0036778421 scopus 로고    scopus 로고
    • A rare case of de novo dup (19q) associated with a mild phenotype
    • Qorri M, Oei P, Dockery H, McGaughran J (2002). A rare case of de novo dup (19q) associated with a mild phenotype. J Med Genet 39: E61.
    • (2002) J. Med. Genet. , vol.39
    • Qorri, M.1    Oei, P.2    Dockery, H.3    McGaughran, J.4
  • 6
    • 56649120573 scopus 로고    scopus 로고
    • The changing phenotype in diploid/triploid mosaicism may mimic genetic syndromes with aberrant genomic imprinting: Follow up in a 14-year-old girl
    • Rittinger O, Kronberger G, Pfeifenberger A, Kotzot D, Fauth C (2008). The changing phenotype in diploid/triploid mosaicism may mimic genetic syndromes with aberrant genomic imprinting: follow up in a 14-year-old girl. Eur J Med Genet 51:573-579.
    • (2008) Eur. J. Med. Genet. , vol.51 , pp. 573-579
    • Rittinger, O.1    Kronberger, G.2    Pfeifenberger, A.3    Kotzot, D.4    Fauth, C.5
  • 7
    • 33847659545 scopus 로고    scopus 로고
    • Proximal 19q trisomy: A new syndrome of morbid obesity and mental retardation
    • Zung A, Rienstein S, Rosensaft J, Aviram-Goldring A, Zadik Z (2007). Proximal 19q trisomy: a new syndrome of morbid obesity and mental retardation. Horm Res 67:105-110.
    • (2007) Horm Res. , vol.67 , pp. 105-110
    • Zung, A.1    Rienstein, S.2    Rosensaft, J.3    Aviram-Goldring, A.4    Zadik, Z.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.