Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with oesophageal atresia

被引:43
作者
Marsh, AJ
Wellesley, D
Burge, D
Ashton, M
Browne, CE
Dennis, NR
Temple, IK
机构
[1] Southampton Univ NHS Hosp Trust, Princess Anne Hosp, Wessex Clin Genet Serv, Southampton SO16 5YA, Hants, England
[2] Southampton Univ NHS Hosp Trust, Southampton Gen Hosp, Dept Paediat Surg, Southampton, Hants, England
[3] St Marys Hosp, Dept Paediat, Portsmouth PO3 6AQ, Hants, England
[4] Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury SP2 8BJ, Wilts, England
关键词
D O I
10.1136/jmg.37.9.701
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:701 / 704
页数:4
相关论文
共 13 条
  • [1] AUTOSOMAL DOMINANT INHERITANCE OF ABNORMALITIES OF THE HANDS AND FEET WITH SHORT PALPEBRAL FISSURES, VARIABLE MICROCEPHALY WITH LEARNING-DISABILITY, AND ESOPHAGEAL DUODENAL ATRESIA
    BRUNNER, HG
    WINTER, RM
    [J]. JOURNAL OF MEDICAL GENETICS, 1991, 28 (06) : 389 - 394
  • [2] Courtens W, 1997, AM J MED GENET, V73, P55
  • [3] INTERSTITIAL DELETION DEL(17) (Q21.3Q23 OR 24.2) SYNDROME
    DALLAPICCOLA, B
    MINGARELLI, R
    DIGILIO, C
    OBREGON, MG
    GIANNOTTI, A
    [J]. CLINICAL GENETICS, 1993, 43 (01) : 54 - 55
  • [4] Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
    Gong, YQ
    Krakow, D
    Marcelino, J
    Wilkin, D
    Chitayat, D
    Babul-Hirji, R
    Hudgins, L
    Cremers, CW
    Cremers, FPM
    Brunner, HG
    Reinker, K
    Rimoin, DL
    Cohn, DH
    Goodman, FR
    Reardon, W
    Patton, M
    Francomano, CA
    Warman, ML
    [J]. NATURE GENETICS, 1999, 21 (03) : 302 - 304
  • [5] KHALIFA MM, 1993, CLIN GENET, V44, P258
  • [6] UNIQUE DE-NOVO INTERSTITIAL DELETION OF CHROMOSOME-17, DEL(17) (Q23.2Q24.3) IN A FEMALE NEWBORN WITH MULTIPLE CONGENITAL-ANOMALIES
    LEVIN, ML
    SHAFFER, LG
    LEWIS, RA
    GRESIK, MV
    LUPSKI, JR
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 55 (01): : 30 - 32
  • [7] Mickelson ECR, 1997, AM J MED GENET, V71, P275, DOI 10.1002/(SICI)1096-8628(19970822)71:3<275::AID-AJMG5>3.0.CO
  • [8] 2-T
  • [9] PARK JP, 1992, CLIN GENET, V41, P54
  • [10] Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study
    Ryan, AK
    Goodship, JA
    Wilson, DI
    Philip, N
    Levy, A
    Seidel, H
    Schuffenhauer, S
    Oechsler, H
    Belohradsky, B
    Prieur, M
    Aurias, A
    Raymond, FL
    ClaytonSmith, J
    Hatchwell, E
    McKeown, C
    Beemer, FA
    Dallapiccola, B
    Novelli, G
    Hurst, JA
    Ignatius, J
    Green, AJ
    Winter, RM
    Brueton, L
    BrondumNielsen, K
    Stewart, F
    VanEssen, T
    Patton, M
    Paterson, J
    Scambler, PJ
    [J]. JOURNAL OF MEDICAL GENETICS, 1997, 34 (10) : 798 - 804