메뉴 건너뛰기




Volumn 6, Issue 4, 1997, Pages 347-350

Spondylocostal dysostosis associated with a 46,XX,+15,dic(6;15)(q25;q11.2) translocation

Author keywords

Chromosomal translocation; Spondylocostal dysostosis

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 15Q; CHROMOSOME 6Q; CHROMOSOME ABERRATION; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; FEMALE; GENE LOCATION; HUMAN; JARCHO LEVIN SYNDROME; KARYOTYPE 46,XX; MONOSOMY; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; SPONDYLOCOSTAL DYSTOSIS; TRISOMY;

EID: 0030860355     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-199710000-00008     Document Type: Article
Times cited : (13)

References (14)
  • 1
    • 0022471829 scopus 로고
    • Spondylocostal/spondylothoracic dysostosis: The clinical basis for prognosticating and genetic counselling
    • Ayme S, Preus M (1986): Spondylocostal/spondylothoracic dysostosis: The clinical basis for prognosticating and genetic counselling. Am J Med Genet 24: 599-606.
    • (1986) Am J Med Genet , vol.24 , pp. 599-606
    • Ayme, S.1    Preus, M.2
  • 2
    • 0023179259 scopus 로고
    • Proximal 15q variant with normal phenotype in three unrelated individuals
    • Brookwell R, Veleba A (1987): Proximal 15q variant with normal phenotype in three unrelated individuals. Clin Genet 31: 311-314.
    • (1987) Clin Genet , vol.31 , pp. 311-314
    • Brookwell, R.1    Veleba, A.2
  • 3
    • 73649192961 scopus 로고
    • Syndrome polydysspondylique par translocation 14-15 et dyschondrosteose chez un meme sujet segregation familiale
    • Paris
    • De Grouchy J, Mlynarski JC, Maroteaux P, Lamy M, Deshaies G, Benichou C, Salmon C (1963): Syndrome polydysspondylique par translocation 14-15 et dyschondrosteose chez un meme sujet segregation familiale. Comp Rend Acad Sci (Paris). 256: 1614-1616.
    • (1963) Comp Rend Acad Sci , vol.256 , pp. 1614-1616
    • De Grouchy, J.1    Mlynarski, J.C.2    Maroteaux, P.3    Lamy, M.4    Deshaies, G.5    Benichou, C.6    Salmon, C.7
  • 4
    • 0024210659 scopus 로고
    • Similar molecular deletions on chromosome 15q11.2 are encountered in both the Prader-Willi and Angelman syndromes
    • Donlon TA (1988): Similar molecular deletions on chromosome 15q11.2 are encountered in both the Prader-Willi and Angelman syndromes. Hum Genet 80: 322-328.
    • (1988) Hum Genet , vol.80 , pp. 322-328
    • Donlon, T.A.1
  • 5
    • 0024441522 scopus 로고
    • Spondylocostal dysostosis: An example of autosomal dominant transmission in a large family
    • Floor E, De Jong RO, Fryns JP, Smulders C, Vles JSH (1989): Spondylocostal dysostosis: an example of autosomal dominant transmission in a large family. Clin Genet 36: 236-241.
    • (1989) Clin Genet , vol.36 , pp. 236-241
    • Floor, E.1    De Jong, R.O.2    Fryns, J.P.3    Smulders, C.4    Vles, J.S.H.5
  • 6
    • 0001741191 scopus 로고
    • Hereditary malformation of the vertebral bodies
    • Jarcho S, Levin PM (1938): Hereditary malformation of the vertebral bodies. Bull Johns Hopkins Hosp 62: 216-226.
    • (1938) Bull Johns Hopkins Hosp , vol.62 , pp. 216-226
    • Jarcho, S.1    Levin, P.M.2
  • 7
    • 0025822651 scopus 로고
    • Jarcho-Levin syndrome: Four new cases and classification of subtypes
    • Karnes PS, Day D, Berry SA, Pierpont MEM (1991): Jarcho-Levin syndrome: four new cases and classification of subtypes. Am J Med Genet 40: 264-270.
    • (1991) Am J Med Genet , vol.40 , pp. 264-270
    • Karnes, P.S.1    Day, D.2    Berry, S.A.3    Pierpont, M.E.M.4
  • 8
    • 0017887664 scopus 로고
    • Recessive spondylocostal dysostosis: Two new cases
    • Silengo MC, Cavallaro S, Franceschini P (1978): Recessive spondylocostal dysostosis: two new cases. Clin Genet 13: 289-294.
    • (1978) Clin Genet , vol.13 , pp. 289-294
    • Silengo, M.C.1    Cavallaro, S.2    Franceschini, P.3
  • 9
    • 0023760747 scopus 로고
    • Congenital spinal deformity in a 3 generation family
    • Temple IK, Thomas TG, Baraitser M (1988): Congenital spinal deformity in a 3 generation family. J Med Genet 25: 831-834.
    • (1988) J Med Genet , vol.25 , pp. 831-834
    • Temple, I.K.1    Thomas, T.G.2    Baraitser, M.3
  • 10
    • 0027219422 scopus 로고
    • Mendelian cytogenetics. Chromosomal rearrangements associated with Mendelian disorders
    • Tommerup N (1993): Mendelian cytogenetics. Chromosomal rearrangements associated with Mendelian disorders. J Med Genet 30: 713-727.
    • (1993) J Med Genet , vol.30 , pp. 713-727
    • Tommerup, N.1
  • 11
    • 0030063014 scopus 로고    scopus 로고
    • Translocation between chromosomes 6 and 15 (45,XX,t(6;15)(q25;q11.2)) with further evidence for lack of imprinting of the insulin-like growth factor II/mannose-6-phosphate receptor in humans
    • Treacy E, Polychronakos C, Vekemans M, Eydoux P, Blaichman S, Scarpelli H, Ross M, Xu Y, Der Kaloustian VM (1996): Translocation between chromosomes 6 and 15 (45,XX,t(6;15)(q25;q11.2)) with further evidence for lack of imprinting of the insulin-like growth factor II/mannose-6-phosphate receptor in humans. J Med Genet 33: 42-46.
    • (1996) J Med Genet , vol.33 , pp. 42-46
    • Treacy, E.1    Polychronakos, C.2    Vekemans, M.3    Eydoux, P.4    Blaichman, S.5    Scarpelli, H.6    Ross, M.7    Xu, Y.8    Der Kaloustian, V.M.9
  • 12
    • 5744226668 scopus 로고
    • Abberations chromosomiques et maladies humaines. La polydysspondylie a 45 chromosomes
    • Paris
    • Turpin R, Lejeune J, Lafourcade J, Gautier M (1959): Abberations chromosomiques et maladies humaines. La polydysspondylie a 45 chromosomes. Comp Rend Acad Sci (Paris). 248: 3636-3638.
    • (1959) Comp Rend Acad Sci , vol.248 , pp. 3636-3638
    • Turpin, R.1    Lejeune, J.2    Lafourcade, J.3    Gautier, M.4
  • 13
    • 0024834436 scopus 로고
    • Familial marker chromosome due to 3:1 disjunction of t(9;15) in a grandparent
    • Winsor EJT, Van Allen MI (1989): Familial marker chromosome due to 3:1 disjunction of t(9;15) in a grandparent. Prenat Diagn 9: 851-855.
    • (1989) Prenat Diagn , vol.9 , pp. 851-855
    • Winsor, E.J.T.1    Van Allen, M.I.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.