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Volumn 19, Issue 5, 1999, Pages 620-623

Hand involvement in 13q deletion syndrome

Author keywords

Absent thumb; Brachyphalangy; Chromosome 13q Developmental delay; Growth disturbance; Metacarpal synostosis

Indexed keywords

ARTICLE; CASE REPORT; CAT CRY SYNDROME; CHILD; CHROMOSOME 13Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 13; CONGENITAL HEART MALFORMATION; FEMALE; GROWTH RETARDATION; HAND MALFORMATION; HUMAN; OSTEOTOMY; PHENOTYPE; PRIORITY JOURNAL; SYNOSTOSIS; TRISOMY 18; TRISOMY 21;

EID: 0032880041     PISSN: 02716798     EISSN: None     Source Type: Journal    
DOI: 10.1097/01241398-199909000-00013     Document Type: Article
Times cited : (3)

References (14)
  • 2
    • 0014665910 scopus 로고
    • The triplo-X female: An appraisal based on a study of 12 cases and a review of the literature
    • Barr ML, Sergovich FR, Carr DH, Shaver EL. The triplo-X female: an appraisal based on a study of 12 cases and a review of the literature. Can Med Assoc J 1969;101:247-58.
    • (1969) Can Med Assoc J , vol.101 , pp. 247-258
    • Barr, M.L.1    Sergovich, F.R.2    Carr, D.H.3    Shaver, E.L.4
  • 3
    • 0014877745 scopus 로고
    • The cri-du-chat syndrome in adolescents and adults: Clinical finding in 13 older patients with partial deletion of the short arm of chromosome no. 5 (5p-)
    • Breg WR, Steele MW, Miller OJ, Warburton D, deCapoa A, Allderdice PW. The cri-du-chat syndrome in adolescents and adults: clinical finding in 13 older patients with partial deletion of the short arm of chromosome No. 5 (5p-). J Pediatr 1970;77:782-91.
    • (1970) J Pediatr , vol.77 , pp. 782-791
    • Breg, W.R.1    Steele, M.W.2    Miller, O.J.3    Warburton, D.4    DeCapoa, A.5    Allderdice, P.W.6
  • 4
    • 0028982746 scopus 로고
    • The 13q-syndrome: The molecular definition of a critical deletion region in band 13q32
    • Brown S, Russo J, Chitayat D, Warburton D. The 13q-syndrome: the molecular definition of a critical deletion region in band 13q32. Am J Hum Genet 1995;57:859-66.
    • (1995) Am J Hum Genet , vol.57 , pp. 859-866
    • Brown, S.1    Russo, J.2    Chitayat, D.3    Warburton, D.4
  • 5
    • 0018170884 scopus 로고
    • Partial deletion of 4p16 band in a ring chromosome and Wolf syndrome
    • del Mazo J, Abrisqueta JA, Pérez-Castillo A, et al. Partial deletion of 4p16 band in a ring chromosome and Wolf syndrome. Hum Genet 1978;44:105-8.
    • (1978) Hum Genet , vol.44 , pp. 105-108
    • Del Mazo, J.1    Abrisqueta, J.A.2    Pérez-Castillo, A.3
  • 6
    • 0027514052 scopus 로고
    • Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: Clinical aspects
    • Hennekam RCM, Tilanus M, Hamel BCJ, et al. Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects. Am J Hum Genet 1993;52:255-62.
    • (1993) Am J Hum Genet , vol.52 , pp. 255-262
    • Hennekam, R.C.M.1    Tilanus, M.2    Hamel, B.C.J.3
  • 7
    • 0014063307 scopus 로고
    • Roentgen findings in the XXXXY chromosome anomaly
    • Houston CS. Roentgen findings in the XXXXY chromosome anomaly. J Can Assoc Radial 1967;18:258-67.
    • (1967) J Can Assoc Radial , vol.18 , pp. 258-267
    • Houston, C.S.1
  • 9
    • 0003057157 scopus 로고
    • Partial trisomies and deletions of chromosome 13
    • Yunis JJ, ed. New York: Academic Press
    • Neibuhr E. Partial trisomies and deletions of chromosome 13. In: Yunis JJ, ed. New chromosomal syndromes. New York: Academic Press, 1977:273-99.
    • (1977) New Chromosomal Syndromes , pp. 273-299
    • Neibuhr, E.1
  • 12
    • 0018414643 scopus 로고
    • Trisomy 9p, a chromosome aberration with distinct radiologie findings
    • Schinzel A. Trisomy 9p, a chromosome aberration with distinct radiologie findings. Radiology 1979;130:125-33.
    • (1979) Radiology , vol.130 , pp. 125-133
    • Schinzel, A.1
  • 13
    • 0027745438 scopus 로고
    • Karyotype-phenotype correlations in autosomal chromosomal aberrations
    • Epstein C, ed. New York: Wiley-Liss
    • Schinzel A. Karyotype-phenotype correlations in autosomal chromosomal aberrations. In: Epstein C, ed. The phenotypic mapping of Down syndrome and other aneuploid conditions. New York: Wiley-Liss, 1993:19-31.
    • (1993) The Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions , pp. 19-31
    • Schinzel, A.1
  • 14
    • 0014051804 scopus 로고
    • Patau's, Edward's and cri-du-chat syndromes: A tabulated summary of current findings
    • Taylor AI. Patau's, Edward's and cri-du-chat syndromes: a tabulated summary of current findings. Dev Med Child Neurol 1967; 9:78-86.
    • (1967) Dev Med Child Neurol , vol.9 , pp. 78-86
    • Taylor, A.I.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.