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Volumn 50, Issue 2, 1996, Pages 96-98

De novo direct duplication 3 (p25 → pter): A previously undescribed chromosomal aberration

Author keywords

Chromosome 3; Direct duplication

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 3; CHROMOSOME ABERRATION; CHROMOSOME DUPLICATION; DEVELOPMENTAL DISORDER; FACE MALFORMATION; GROWTH RETARDATION; HUMAN; HUMAN CELL; INFANT; KARYOTYPE 46,XY; KIDNEY HYPOPLASIA; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 0029966928     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1996.tb02356.x     Document Type: Article
Times cited : (9)

References (8)
  • 1
    • 0018174929 scopus 로고
    • Clinical syndromes associated with partial duplications of chromosomes 2 and 3: Dup(2p), dup(2q), dup(3p), dup(3q)
    • Franke U. Clinical syndromes associated with partial duplications of chromosomes 2 and 3: dup(2p), dup(2q), dup(3p), dup(3q). Birth Defects OAS 1978: XIV: 191-217.
    • (1978) Birth Defects OAS , vol.14 , pp. 191-217
    • Franke, U.1
  • 3
    • 0020626386 scopus 로고
    • The dup (3)(p25→pter) syndrome: A case with holoprosencephaly
    • Martin NJ, Steinberg BG. The dup (3)(p25→pter) syndrome: a case with holoprosencephaly. Am J Med Genet 1983: 14: 767-772.
    • (1983) Am J Med Genet , vol.14 , pp. 767-772
    • Martin, N.J.1    Steinberg, B.G.2
  • 4
    • 0018305745 scopus 로고
    • Partial trisomy of the short arm of chromosome 3 (3p25→3pter)
    • Parloir C, Fryns J-P, Van den Berghe H. Partial trisomy of the short arm of chromosome 3 (3p25→3pter). Hum Genet 1979: 47: 239-244.
    • (1979) Hum Genet , vol.47 , pp. 239-244
    • Parloir, C.1    Fryns, J.-P.2    Van Den Berghe, H.3
  • 5
    • 84886636964 scopus 로고
    • Familial translocation (3p15p) with partial trisomy for the upper arm of chromosome 3 in two sibs
    • Say B, Barber N, Bobrow M, Jones K, Coldwell JG. Familial translocation (3p15p) with partial trisomy for the upper arm of chromosome 3 in two sibs. J Pediatr 1976: 88: 447-450.
    • (1976) J Pediatr , vol.88 , pp. 447-450
    • Say, B.1    Barber, N.2    Bobrow, M.3    Jones, K.4    Coldwell, J.G.5
  • 6
    • 0003995432 scopus 로고
    • Oxford Medical Databases Series, Oxford University Press, Electronic Publishing, Oxford
    • Schinzel A. Human Cytogenetics Database 1994. Oxford Medical Databases Series, Oxford University Press, Electronic Publishing, Oxford, 1994.
    • (1994) Human Cytogenetics Database 1994
    • Schinzel, A.1
  • 7
    • 0002522630 scopus 로고
    • Isochromosomes and interstitial tandem direct and inverted duplications
    • Daniel A, ed. New York: Alan R. Liss
    • Van Dyke DL. Isochromosomes and interstitial tandem direct and inverted duplications. In: Daniel A, ed. The cytogenetics of mammalian autosomal rearrangements. New York: Alan R. Liss, 1988: 635-665.
    • (1988) The Cytogenetics of Mammalian Autosomal Rearrangements , pp. 635-665
    • Van Dyke, D.L.1
  • 8
    • 0017911756 scopus 로고
    • Trisomy for the distal end of the short arm of chromosome 3. A syndrome
    • Yunis JJ. Trisomy for the distal end of the short arm of chromosome 3. A syndrome. Am J Dis Child 1978: 132: 30-33.
    • (1978) Am J Dis Child , vol.132 , pp. 30-33
    • Yunis, J.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.