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Volumn 140 A, Issue 4, 2006, Pages 388-391

Karyotype-phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit [2]

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHROMOSOME 3P; CHROMOSOME 8Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME G BAND; CLINICAL FEATURE; COGNITIVE DEFECT; CYTOGENETICS; HUMAN; KARYOTYPE; LETTER; MALE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 32444438094     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.31066     Document Type: Letter
Times cited : (19)

References (16)
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    • 46,XY,del(3) (pter-p25) syndrome: Further delineation of the clinical phenotype
    • Benini D, Vino L, Vecchini S, Fanos V. 1999. 46,XY,del(3) (pter-p25) syndrome: Further delineation of the clinical phenotype. Eur J Pediatr 138:955-957.
    • (1999) Eur J Pediatr , vol.138 , pp. 955-957
    • Benini, D.1    Vino, L.2    Vecchini, S.3    Fanos, V.4
  • 2
    • 0032794675 scopus 로고    scopus 로고
    • Familial cryptic translocation between chromosomes 2qter and 8qter: Further delineation of the Albright hereditary osteodystrophy-like phenotype
    • Bijsma EK, Aalfs CM, Sluijter S, Oude Luttikhuis MEM, Trembath RC, Hoovers JMN, Hennekam RCM. 1999. Familial cryptic translocation between chromosomes 2qter and 8qter: Further delineation of the Albright hereditary osteodystrophy-like phenotype. J Med Genet 36:604-609.
    • (1999) J Med Genet , vol.36 , pp. 604-609
    • Bijsma, E.K.1    Aalfs, C.M.2    Sluijter, S.3    Oude Luttikhuis, M.E.M.4    Trembath, R.C.5    Hoovers, J.M.N.6    Hennekam, R.C.M.7
  • 6
    • 0020061034 scopus 로고
    • A second patient with partial deletion of the short arm of chromosome 3: Karyotype 46,XY,del(3)(p25)
    • Higginbottom MC, Mascarello JT, Hassin H, McCord WK. 1982. A second patient with partial deletion of the short arm of chromosome 3: Karyotype 46,XY,del(3)(p25). J Med Genet 19:71-73.
    • (1982) J Med Genet , vol.19 , pp. 71-73
    • Higginbottom, M.C.1    Mascarello, J.T.2    Hassin, H.3    McCord, W.K.4
  • 7
    • 32444444229 scopus 로고    scopus 로고
    • Deletion 3p25.3 in a mother and daughter with normal phenotype
    • 717A
    • Jervis GA, Newkirk P, Kousseff BG. 2002. Deletion 3p25.3 in a mother and daughter with normal phenotype. Am J Hum Genet 71:294(717A).
    • (2002) Am J Hum Genet , vol.71 , pp. 294
    • Jervis, G.A.1    Newkirk, P.2    Kousseff, B.G.3
  • 10
    • 0025166530 scopus 로고
    • Loss of the 3p25.3 hand is critical in the manifestation of del(3p) syndrome: Karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3
    • Narahara K, Kikkawa K, Murakami M, Hiramoto K, Namba H, Tsuji K, Yokoyama Y, Kimoto H. 1990. Loss of the 3p25.3 hand is critical in the manifestation of del(3p) syndrome: Karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3. Am J Med Genet 35:269-273.
    • (1990) Am J Med Genet , vol.35 , pp. 269-273
    • Narahara, K.1    Kikkawa, K.2    Murakami, M.3    Hiramoto, K.4    Namba, H.5    Tsuji, K.6    Yokoyama, Y.7    Kimoto, H.8
  • 11
    • 0026457860 scopus 로고
    • Infant with del(3)(p25-pter): Karyotype-phenotype correlation and review of previously reported cases
    • Nienhaus H, Man U, Zang KD. 1992. Infant with del(3)(p25-pter): Karyotype-phenotype correlation and review of previously reported cases. Am J Med Genet 44:573-575.
    • (1992) Am J Med Genet , vol.44 , pp. 573-575
    • Nienhaus, H.1    Man, U.2    Zang, K.D.3
  • 12
    • 0037154254 scopus 로고    scopus 로고
    • In silico chromosome staining: Reconstruction of Giemsa bands from the whole human genome sequence
    • Niimura Y, Gojobori T. 2002. In silico chromosome staining: Reconstruction of Giemsa bands from the whole human genome sequence. Proc Natl Acad Sci USA 99(2):797-802.
    • (2002) Proc Natl Acad Sci USA , vol.99 , Issue.2 , pp. 797-802
    • Niimura, Y.1    Gojobori, T.2
  • 14
    • 0033612145 scopus 로고    scopus 로고
    • Mapping a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature to Xq12-q21.31
    • Shrimpton AE, Daly KM, Hoo JJ. 1999. Mapping a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature to Xq12-q21.31. Am J Med Genet 84:293-299.
    • (1999) Am J Med Genet , vol.84 , pp. 293-299
    • Shrimpton, A.E.1    Daly, K.M.2    Hoo, J.J.3
  • 16
    • 0017920335 scopus 로고
    • A patient with a partial deletion of the short arm of chromosome 3: Karyotype: 46,XY,del(3)(p25)
    • Verjaal M, De Nef J. 1978. A patient with a partial deletion of the short arm of chromosome 3: Karyotype: 46,XY,del(3)(p25). Am J Dis Child 132:43-45.
    • (1978) Am J Dis Child , vol.132 , pp. 43-45
    • Verjaal, M.1    De Nef, J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.