메뉴 건너뛰기




Volumn 12, Issue 3, 2003, Pages 175-177

Temtamy-like syndrome associated with translocation of 2p24 and 9q32

Author keywords

Agenesis of the corpus callosum; Colobomas; Dysmorphic features; Temtamy syndrome; Translocation (2, 9)(p24, q32)

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 2; CHROMOSOME 9; CHROMOSOME ANALYSIS; CHROMOSOME DISORDER; CHROMOSOME TRANSLOCATION; CHROMOSOME TRANSLOCATION 2; CHROMOSOME TRANSLOCATION 9; COLOBOMA; CONGENITAL MALFORMATION; CORPUS CALLOSUM AGENESIS; EAR MALFORMATION; FACE; FACIES; FEMALE; GENETICS; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYDRONEPHROSIS; KIDNEY AGENESIS; LOW SET EAR; MENTAL DEFICIENCY; MULTIPLE MALFORMATION SYNDROME; NEUROGENIC BLADDER; PATENT DUCTUS ARTERIOSUS; PERCEPTION DEAFNESS; PHENOTYPE; PHILTRUM; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; TEMTAMY LIKE SYNDROME;

EID: 0042868727     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200307000-00005     Document Type: Article
Times cited : (13)

References (10)
  • 1
    • 0033946464 scopus 로고    scopus 로고
    • Craniofacial dysmorphism, agenesis of the corpus callosum and ocular colobomas: Temtamy syndrome?
    • Chan AKJ, Levin AV, Teebi AS (2000). Craniofacial dysmorphism, agenesis of the corpus callosum and ocular colobomas: Temtamy syndrome? Clin Dysmorphol 9:223-226.
    • (2000) Clin Dysmorphol , vol.9 , pp. 223-226
    • Chan, A.K.J.1    Levin, A.V.2    Teebi, A.S.3
  • 2
    • 0041959412 scopus 로고
    • The polycystic kidney disease gene 1 encodes a 14kb transcript and lies within a duplicated region on chromosome 16
    • European Polycystic Kidney Disease Consortium (1994). The polycystic kidney disease gene 1 encodes a 14kb transcript and lies within a duplicated region on chromosome 16. Cell 77:1-20.
    • (1994) Cell , vol.77 , pp. 1-20
  • 3
    • 0025990674 scopus 로고
    • Patients with deletions of 9q22q34 do not define a syndrome: Three case reports and a literature review
    • Farrell SA, Siegel-Bartelt J, Teshima I (1991). Patients with deletions of 9q22q34 do not define a syndrome: three case reports and a literature review. Clin Genet 40:207-214.
    • (1991) Clin Genet , vol.40 , pp. 207-214
    • Farrell, S.A.1    Siegel-Bartelt, J.2    Teshima, I.3
  • 4
    • 0027958381 scopus 로고
    • Another patient with an interstitial deletion of chromosome 9: Case report and a review of six cases with del(9)(q22q32)
    • Kroes HY, Tuerlings J, Hordijk R, Folkers N, Kate L (1994). Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32). J Med Genet 31:156-158.
    • (1994) J Med Genet , vol.31 , pp. 156-158
    • Kroes, H.Y.1    Tuerlings, J.2    Hordijk, R.3    Folkers, N.4    Kate, L.5
  • 8
    • 10744223290 scopus 로고    scopus 로고
    • Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32
    • in press
    • Ramocki MB, Dowling J, Kimonis VE,Grinberg V, Cardoso C, Gross A, et al. (2003). Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32. Eur J Hum Genet (in press).
    • (2003) Eur J Hum Genet
    • Ramocki, M.B.1    Dowling, J.2    Kimonis, V.E.3    Grinberg, V.4    Cardoso, C.5    Gross, A.6
  • 9
    • 0029817972 scopus 로고    scopus 로고
    • New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism, absent corpus callosum, iris colobomas and connective tissue dysplasia
    • Temtamy SA, Salam MA, Aboul-Ezz EHA, Hussein HA, Helmy SAH, Shalash BA (1996). New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism, absent corpus callosum, iris colobomas and connective tissue dysplasia. Clin Dysmorphol 5:231-240.
    • (1996) Clin Dysmorphol , vol.5 , pp. 231-240
    • Temtamy, S.A.1    Salam, M.A.2    Aboul-Ezz, E.H.A.3    Hussein, H.A.4    Helmy, S.A.H.5    Shalash, B.A.6
  • 10
    • 0025941775 scopus 로고
    • De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints
    • Warburton D (1991). De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 49:995-1013.
    • (1991) Am J Hum Genet , vol.49 , pp. 995-1013
    • Warburton, D.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.