메뉴 건너뛰기




Volumn 119, Issue 1-2, 2007, Pages 15-20

Molecular studies of segmental aneusomy: FISHing for the atypical cry in del(5)(p15.3)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CAT CRY SYNDROME; CHROMOSOME 11Q; CHROMOSOME 5P; CHROMOSOME DELETION; CHROMOSOME MAP; CLINICAL FEATURE; CONGENITAL MALFORMATION; CRYPTORCHISM; CYTOGENETICS; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH RETARDATION; HEART DISEASE; HUMAN; HUMAN CELL; MALE; MICROPENIS; MONOSOMY; MULTIPLE MALFORMATION SYNDROME; MUSCLE HYPOTONIA; NEWBORN; OPTIC NERVE HYPOPLASIA; PRIORITY JOURNAL; TELOMERE; TRISOMY;

EID: 37549066344     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000109613     Document Type: Article
Times cited : (2)

References (20)
  • 2
    • 0030566390 scopus 로고    scopus 로고
    • 11q duplication in a patient with Pitt-Rogers-Danks phenotype
    • de Die-Smulders CE, Engelen JJ: 11q duplication in a patient with Pitt-Rogers-Danks phenotype. Am J Med Genet 66:116-117 (1996).
    • (1996) Am J Med Genet , vol.66 , pp. 116-117
    • de Die-Smulders, C.E.1    Engelen, J.J.2
  • 3
    • 0031785614 scopus 로고    scopus 로고
    • Identification and molecular characterization of a small 11q23.3 de novo duplication in a patient with Rett syndrome manifestations
    • Delobel B, Delannoy V, Pini G, Zapella M, Tardieu M, et al: Identification and molecular characterization of a small 11q23.3 de novo duplication in a patient with Rett syndrome manifestations. Am J Med Genet 80:273-280 (1998).
    • (1998) Am J Med Genet , vol.80 , pp. 273-280
    • Delobel, B.1    Delannoy, V.2    Pini, G.3    Zapella, M.4    Tardieu, M.5
  • 4
  • 5
    • 0029989053 scopus 로고    scopus 로고
    • De novo 46,XX, dir dup (11)(q133.3→q14.2) in a patient with mental retardation, congenital cardiopathy and thrombopenia
    • Legius E, Wlodarska I, Selleri L, Evans GA, Wu R, et al: De novo 46,XX, dir dup (11)(q133.3→q14.2) in a patient with mental retardation, congenital cardiopathy and thrombopenia. Clin Genet 49:206-210 (1996).
    • (1996) Clin Genet , vol.49 , pp. 206-210
    • Legius, E.1    Wlodarska, I.2    Selleri, L.3    Evans, G.A.4    Wu, R.5
  • 6
    • 0035078603 scopus 로고    scopus 로고
    • Clinical and molecular characterisation of 80 patients with 5p deletion: Genotype-phenotype correlation
    • Mainardi PC, Perfumo C, Cali A, Coucourde G, Pastore G, et al: Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet 38:151-158 (2001).
    • (2001) J Med Genet , vol.38 , pp. 151-158
    • Mainardi, P.C.1    Perfumo, C.2    Cali, A.3    Coucourde, G.4    Pastore, G.5
  • 7
    • 0015398611 scopus 로고
    • Cri-du-chat syndrome combined with partial C-group trisomy
    • Mann J, Rafferty JH: Cri-du-chat syndrome combined with partial C-group trisomy. J Med Genet 9:289-292 (1972).
    • (1972) J Med Genet , vol.9 , pp. 289-292
    • Mann, J.1    Rafferty, J.H.2
  • 8
    • 0017749894 scopus 로고
    • The larynx in the cri du chat syndrome
    • Manning KP: The larynx in the cri du chat syndrome. J Laryngol Otol 91:887-892 (1977).
    • (1977) J Laryngol Otol , vol.91 , pp. 887-892
    • Manning, K.P.1
  • 10
    • 0023847906 scopus 로고
    • Duplication 11q and deletion 5p syndromes due to a reciprocal translocation segregating in four generations
    • Mutchinick O, Ramos Z, Sanchez F, Ruz L, Lisker R, Ovseyevitz J: Duplication 11q and deletion 5p syndromes due to a reciprocal translocation segregating in four generations. Am J Med Genet 29:187-192 (1988).
    • (1988) Am J Med Genet , vol.29 , pp. 187-192
    • Mutchinick, O.1    Ramos, Z.2    Sanchez, F.3    Ruz, L.4    Lisker, R.5    Ovseyevitz, J.6
  • 11
    • 0018137411 scopus 로고
    • The Cri du Chat syndrome: Epidemiology, cytogenetics, and clinical features
    • Niebuhr E: The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet 44:227-275 (1978).
    • (1978) Hum Genet , vol.44 , pp. 227-275
    • Niebuhr, E.1
  • 12
    • 0027141006 scopus 로고
    • Tandem duplication 11q23-ter in the dysmorphic child of a retarded mother mosaic for the same anomaly with no apparent abnormalities
    • Pfeiffer RA, Schutz C: Tandem duplication 11q23-ter in the dysmorphic child of a retarded mother mosaic for the same anomaly with no apparent abnormalities. Ann Genet 36:163-166 (1993).
    • (1993) Ann Genet , vol.36 , pp. 163-166
    • Pfeiffer, R.A.1    Schutz, C.2
  • 13
    • 16444387165 scopus 로고    scopus 로고
    • A natural history of a child with monosomy 5p syndrome (Cat-cry/Cri-du-chat syndrome) during the 18 years of follow-up
    • Posmyk R, Panasiuk B, Yatsenko SA, Stankiewicz P, Midro AT: A natural history of a child with monosomy 5p syndrome (Cat-cry/Cri-du-chat syndrome) during the 18 years of follow-up. Genet Couns 16:17-25 (2005).
    • (2005) Genet Couns , vol.16 , pp. 17-25
    • Posmyk, R.1    Panasiuk, B.2    Yatsenko, S.A.3    Stankiewicz, P.4    Midro, A.T.5
  • 14
    • 0031018685 scopus 로고    scopus 로고
    • At least nine cases of trisomy 11q23→qter in one generation as a result of familial t(11; 13) translocation
    • Smeets D, van Ravenswaaij C, de Pater J, Gerssen-Schoorl K, Van Hemel J, et al: At least nine cases of trisomy 11q23→qter in one generation as a result of familial t(11; 13) translocation. J Med Genet 34:18-23 (1997).
    • (1997) J Med Genet , vol.34 , pp. 18-23
    • Smeets, D.1    van Ravenswaaij, C.2    de Pater, J.3    Gerssen-Schoorl, K.4    Van Hemel, J.5
  • 15
    • 0025856032 scopus 로고
    • Phonatory and phonetic characteristics of prelinguistic vocal development in cri du chat syndrome
    • Sohner L, Mitchell P: Phonatory and phonetic characteristics of prelinguistic vocal development in cri du chat syndrome. J Commun Disord 24:13-20 (1991).
    • (1991) J Commun Disord , vol.24 , pp. 13-20
    • Sohner, L.1    Mitchell, P.2
  • 17
    • 0020633044 scopus 로고
    • Clinical heterogeneity in 80 home-reared children with cri du chat syndrome
    • Wilkins LE, Brown JA, Nance WE, Wolf B: Clinical heterogeneity in 80 home-reared children with cri du chat syndrome. J Pediatr 102:528-533 (1983).
    • (1983) J Pediatr , vol.102 , pp. 528-533
    • Wilkins, L.E.1    Brown, J.A.2    Nance, W.E.3    Wolf, B.4
  • 18
    • 2142755292 scopus 로고    scopus 로고
    • Familial interstitial duplication of 11q; partial trisomy (11)(q13.5q21)
    • Yelavarthi KK, Zunich J: Familial interstitial duplication of 11q; partial trisomy (11)(q13.5q21). Am J Med Genet A 126:423-426 (2004).
    • (2004) Am J Med Genet A , vol.126 , pp. 423-426
    • Yelavarthi, K.K.1    Zunich, J.2
  • 19
    • 19944430269 scopus 로고    scopus 로고
    • High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization
    • Zhang X, Snijders A, Segraves R, Niebuhr A, Albertson D, et al: High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization. Am J Hum Genet 76:312-326 (2005).
    • (2005) Am J Hum Genet , vol.76 , pp. 312-326
    • Zhang, X.1    Snijders, A.2    Segraves, R.3    Niebuhr, A.4    Albertson, D.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.