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Volumn 33, Issue 9, 1996, Pages 795-797

A 3 1/4 year old girl with distal trisomy 19q defined by FISH

Author keywords

Chromosome 10; Dysmorphic features; Library probes; Mental retardation

Indexed keywords

ARTICLE; BODY WEIGHT; CASE REPORT; CHROMOSOME 10; CHROMOSOME 19; CHROMOSOME 19Q; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; CLINODACTYLY; CONVERGENT STRABISMUS; CYTOGENETICS; EAR LOBE; EXTERNAL EAR MALFORMATION; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOREHEAD; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HEIGHT; HUMAN; HUMAN CELL; KARYOTYPE 46,XX; NOSE MALFORMATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT STATURE; TRISOMY; CHILD; GENETICS; GROWTH DISORDER; KARYOTYPING; YEAST ARTIFICIAL CHROMOSOME;

EID: 0029658244     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (12)

References (9)
  • 1
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    • The origin of cytologically unidentifiable chromosome abnormalities: Six cases ascertained by targeted chromosome-band painting
    • Ohta T, Tohma T, Soejima H, et al. The origin of cytologically unidentifiable chromosome abnormalities: six cases ascertained by targeted chromosome-band painting. Hum Genet 1993;92:1-5.
    • (1993) Hum Genet , vol.92 , pp. 1-5
    • Ohta, T.1    Tohma, T.2    Soejima, H.3
  • 2
    • 0027491266 scopus 로고
    • A strategy for the characterization of minute chromosome rearrangements using multiple colour fluorescence in situ hybridisation with chromosome-specific DNA libraries and YAC clones
    • Popp S, Jauch A, Schindler D, et al. A strategy for the characterization of minute chromosome rearrangements using multiple colour fluorescence in situ hybridisation with chromosome-specific DNA libraries and YAC clones. Hum Genet 1993;92:527-32.
    • (1993) Hum Genet , vol.92 , pp. 527-532
    • Popp, S.1    Jauch, A.2    Schindler, D.3
  • 3
    • 0027537408 scopus 로고
    • Detection of complete and partial gains and losses by comparative in situ genomic hybridisation
    • Du Manoir S, Speicher MR, Joos S, et al. Detection of complete and partial gains and losses by comparative in situ genomic hybridisation. Hum Genet 1993;90:590-610.
    • (1993) Hum Genet , vol.90 , pp. 590-610
    • Du Manoir, S.1    Speicher, M.R.2    Joos, S.3
  • 4
    • 0028866305 scopus 로고
    • Prenatal identification of i(Yp) by molecular cytogenetic analysis
    • Wang BBT, Yu LC, Peng W, Falk RE, Williams J. Prenatal identification of i(Yp) by molecular cytogenetic analysis. Prenat Diagn 1995;15:1115-19.
    • (1995) Prenat Diagn , vol.15 , pp. 1115-1119
    • Wang, B.B.T.1    Yu, L.C.2    Peng, W.3    Falk, R.E.4    Williams, J.5
  • 5
    • 0029127755 scopus 로고
    • Investigations with fluorescence in situ hybridisation (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in the Prader-Willi and Angelman syndromes
    • Jauch A, Robson L, Smith A. Investigations with fluorescence in situ hybridisation (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in the Prader-Willi and Angelman syndromes. Hum Genet 1995;96:345-9.
    • (1995) Hum Genet , vol.96 , pp. 345-349
    • Jauch, A.1    Robson, L.2    Smith, A.3
  • 7
    • 0343950270 scopus 로고
    • Dup(19)(q13.3-qter)
    • Baraitser M, Winter RM, series eds. Oxford Medical Databases: Cytogenetics. Oxford: Oxford University Press
    • Schinzel A. Dup(19)(q13.3-qter). In: Baraitser M, Winter RM, series eds. The human cytogenetics database HCDB V10. Oxford Medical Databases: Cytogenetics. Oxford: Oxford University Press, 1994.
    • (1994) The Human Cytogenetics Database HCDB V10
    • Schinzel, A.1
  • 8
    • 0026593524 scopus 로고
    • Duplication of distal 19q: Clinical report and review
    • Boyd E, Grass FS, Parke JC, et al. Duplication of distal 19q: clinical report and review. Am J Med Genet 1992;42:326-30.
    • (1992) Am J Med Genet , vol.42 , pp. 326-330
    • Boyd, E.1    Grass, F.S.2    Parke, J.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.