메뉴 건너뛰기




Volumn 49, Issue 6, 2006, Pages 487-493

Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion

Author keywords

Chromosome 1; Deletion; Long arm

Indexed keywords

ADULT; AMNIOCENTESIS; ARTICLE; AUTOPSY; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CHROMOSOME 1Q; DOWN SYNDROME; FEMALE; FETUS; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENETIC SCREENING; HUMAN; INTRAUTERINE GROWTH RETARDATION; KARYOTYPE; LIMB DEFECT; MALE; PRENATAL DIAGNOSIS; CHROMOSOME 1; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION; GENETICS; LIMB MALFORMATION; MULTIPLE MALFORMATION SYNDROME; PHENOTYPE; PREGNANCY; REVIEW;

EID: 33845961002     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2006.03.004     Document Type: Article
Times cited : (13)

References (26)
  • 1
    • 0021844618 scopus 로고
    • Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21----q25) and del(1)(q41----q43)
    • Beemer F.A., Klep-de Pater J.M., Sepers G.J., and Janssen B. Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21----q25) and del(1)(q41----q43). Clin. Genet. 27 (1985) 515-519
    • (1985) Clin. Genet. , vol.27 , pp. 515-519
    • Beemer, F.A.1    Klep-de Pater, J.M.2    Sepers, G.J.3    Janssen, B.4
  • 2
    • 0026665242 scopus 로고
    • Prenatal diagnosis of terminal deletion 1 (q42)
    • Dallapiccola B., Ferranti G., and Pachi A. Prenatal diagnosis of terminal deletion 1 (q42). Prenat. Diagn. 12 (1992) 853
    • (1992) Prenat. Diagn. , vol.12 , pp. 853
    • Dallapiccola, B.1    Ferranti, G.2    Pachi, A.3
  • 3
    • 0019155466 scopus 로고
    • Interstitial deletion in the long arms of chromosome 1: 46,XY,del(1)(pter leads to q22::q25 leads to qter)
    • De Pablo C.E., Garcia Sagredo J.M., Ferro M.T., Ferrando P., and San Roman C. Interstitial deletion in the long arms of chromosome 1: 46,XY,del(1)(pter leads to q22::q25 leads to qter). J. Med. Genet. 17 (1980) 483-486
    • (1980) J. Med. Genet. , vol.17 , pp. 483-486
    • De Pablo, C.E.1    Garcia Sagredo, J.M.2    Ferro, M.T.3    Ferrando, P.4    San Roman, C.5
  • 5
    • 0021964486 scopus 로고
    • Intercalary de novo deletion of chromosome 1: del(1) (q24 to q32)]
    • Faugeras C., and Barthe D. Intercalary de novo deletion of chromosome 1: del(1) (q24 to q32)]. J. Genet. Hum. 33 (1985) 51-56
    • (1985) J. Genet. Hum. , vol.33 , pp. 51-56
    • Faugeras, C.1    Barthe, D.2
  • 7
    • 0017846434 scopus 로고
    • Reproductive outcome in a family with an inherited deletion-insertion chromosome 1
    • Garver K.L., Marchese S.G., Fatora S.R., and Pan S.F. Reproductive outcome in a family with an inherited deletion-insertion chromosome 1. Am. J. Obstet. Gynecol. 131 (1978) 345-346
    • (1978) Am. J. Obstet. Gynecol. , vol.131 , pp. 345-346
    • Garver, K.L.1    Marchese, S.G.2    Fatora, S.R.3    Pan, S.F.4
  • 8
    • 0031947559 scopus 로고    scopus 로고
    • Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis
    • Gelb B.D., Willner J.P., Dunn T.M., Kardon N.B., Verloes A., Poncin J., and Desnick R.J. Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. Am. J. Hum. Genet. 62 (1998) 848-854
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 848-854
    • Gelb, B.D.1    Willner, J.P.2    Dunn, T.M.3    Kardon, N.B.4    Verloes, A.5    Poncin, J.6    Desnick, R.J.7
  • 10
    • 0345327689 scopus 로고    scopus 로고
    • Interstitial 1q25.3-q31.3 deletion in a boy with mild manifestations
    • Hoglund P., Jalkanen R., Marttinen E., and Alitalo T. Interstitial 1q25.3-q31.3 deletion in a boy with mild manifestations. Am. J. Med. Genet. 123A (2003) 290-295
    • (2003) Am. J. Med. Genet. , vol.123 A , pp. 290-295
    • Hoglund, P.1    Jalkanen, R.2    Marttinen, E.3    Alitalo, T.4
  • 11
    • 0017156048 scopus 로고
    • Primary hypothyroidism, growth hormone deficiency and congenital malformations in a child with the karyotype 46,XY,del(1)(q25q32)
    • Koivisto M., Akerblom H.K., Remes M., and de La Chapelle A. Primary hypothyroidism, growth hormone deficiency and congenital malformations in a child with the karyotype 46,XY,del(1)(q25q32). Acta Paediatr. Scand. 65 (1976) 513-518
    • (1976) Acta Paediatr. Scand. , vol.65 , pp. 513-518
    • Koivisto, M.1    Akerblom, H.K.2    Remes, M.3    de La Chapelle, A.4
  • 12
    • 0027447187 scopus 로고
    • Multiple craniofacial anomalies associated with an interstitial deletion of chromosome 1(q21->q25)
    • Leichtman L.G., Strum D., and Brothman A.R. Multiple craniofacial anomalies associated with an interstitial deletion of chromosome 1(q21->q25). Am. J. Med. Genet. 45 (1993) 677-678
    • (1993) Am. J. Med. Genet. , vol.45 , pp. 677-678
    • Leichtman, L.G.1    Strum, D.2    Brothman, A.R.3
  • 14
    • 34250235581 scopus 로고
    • Interstitial deletion 46,XY, del(1)(q23q25)
    • Martin A.O., and Simpson J.L. Interstitial deletion 46,XY, del(1)(q23q25). Hum. Genet. 61 (1982) 277
    • (1982) Hum. Genet. , vol.61 , pp. 277
    • Martin, A.O.1    Simpson, J.L.2
  • 16
    • 0035892811 scopus 로고    scopus 로고
    • A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency
    • Pallotta R., Dalpra L., Miozzo M., Ehresmann T., and Fusilli P. A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency. Am. J. Med. Genet. 104 (2001) 282-286
    • (2001) Am. J. Med. Genet. , vol.104 , pp. 282-286
    • Pallotta, R.1    Dalpra, L.2    Miozzo, M.3    Ehresmann, T.4    Fusilli, P.5
  • 17
    • 0017603525 scopus 로고
    • Meiotic consequences of an intrachromosomal insertion of chromosome No 1: a family pedigree
    • Pan S.F., Fatora S.R., Sorg R., Garver K.L., and Steele M.W. Meiotic consequences of an intrachromosomal insertion of chromosome No 1: a family pedigree. Clin. Genet. 12 (1977) 303-313
    • (1977) Clin. Genet. , vol.12 , pp. 303-313
    • Pan, S.F.1    Fatora, S.R.2    Sorg, R.3    Garver, K.L.4    Steele, M.W.5
  • 20
    • 0018929795 scopus 로고
    • Interstitial deletion of the long arm of chromosome 1, del(1)(q21 leads to q25) in a profoundly retarded 8-year-old girl with multiple anomalies
    • Schinzel A., and Schmid W. Interstitial deletion of the long arm of chromosome 1, del(1)(q21 leads to q25) in a profoundly retarded 8-year-old girl with multiple anomalies. Clin. Genet. 18 (1980) 305-313
    • (1980) Clin. Genet. , vol.18 , pp. 305-313
    • Schinzel, A.1    Schmid, W.2
  • 22
    • 0021166995 scopus 로고
    • Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to interstitial deletion 1q
    • Steinbach P., Wolf M., and Schmidt H. Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to interstitial deletion 1q. Am. J. Med. Genet. 19 (1984) 131-136
    • (1984) Am. J. Med. Genet. , vol.19 , pp. 131-136
    • Steinbach, P.1    Wolf, M.2    Schmidt, H.3
  • 23
    • 0031056896 scopus 로고    scopus 로고
    • Interstitial deletion of chromosome 1q [del(1)(q24q25.3)] identified by fluorescence in situ hybridization and gene dosage analysis of apolipoprotein A-II, coagulation factor V, and antithrombin III
    • Takano T., Yamanouchi Y., Mori Y., Kudo S., Nakayama T., Sugiura M., Hashira S., and Abe T. Interstitial deletion of chromosome 1q [del(1)(q24q25.3)] identified by fluorescence in situ hybridization and gene dosage analysis of apolipoprotein A-II, coagulation factor V, and antithrombin III. Am. J. Med. Genet. 68 (1997) 207-210
    • (1997) Am. J. Med. Genet. , vol.68 , pp. 207-210
    • Takano, T.1    Yamanouchi, Y.2    Mori, Y.3    Kudo, S.4    Nakayama, T.5    Sugiura, M.6    Hashira, S.7    Abe, T.8
  • 24
    • 0020352975 scopus 로고
    • A new syndrome of proximal deletion of the long arm of chromosome 1: 1q21-23 leads to 1q25
    • Taysi K., Sekhon G.S., and Hillman R.E. A new syndrome of proximal deletion of the long arm of chromosome 1: 1q21-23 leads to 1q25. Am. J. Med. Genet. 13 (1982) 423
    • (1982) Am. J. Med. Genet. , vol.13 , pp. 423
    • Taysi, K.1    Sekhon, G.S.2    Hillman, R.E.3
  • 25
    • 0016341470 scopus 로고
    • De novo interstitial deletion Del (1) (q24 q32.1) in a malformed child
    • Turleau C., Roubin M., Chavin-Colin F., Satge M., and de Grouchy J. De novo interstitial deletion Del (1) (q24 q32.1) in a malformed child. Ann. Genet. 17 (1974) 291-294
    • (1974) Ann. Genet. , vol.17 , pp. 291-294
    • Turleau, C.1    Roubin, M.2    Chavin-Colin, F.3    Satge, M.4    de Grouchy, J.5
  • 26
    • 0020644067 scopus 로고
    • Distal 1q monosomy. 2 new cases and description of the syndrome
    • Turleau C., de Grouchy J., Frezal J., and Richardet J.M. Distal 1q monosomy. 2 new cases and description of the syndrome. Ann. Genet. 26 (1983) 161-164
    • (1983) Ann. Genet. , vol.26 , pp. 161-164
    • Turleau, C.1    de Grouchy, J.2    Frezal, J.3    Richardet, J.M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.