Impact of array comparative genomic hybridization-derived information on genetic Counseling demonstrated by prenatal diagnosis of the TAR (Thrombocytopenia-Absent-radius) syndrome-associated microdeletion 1q21.1

被引:10
|
作者
Uhrig, Sabine
Schlembach, Dietmar
Waldispuehl-Geigl, Julie
Schaffer, Werner
Geigl, Jochen
Klopocki, Eva
Mundlos, Stefan
Speicher, Michael R.
机构
关键词
D O I
10.1086/521338
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:866 / 868
页数:3
相关论文
共 6 条
  • [1] Thrombocytopenia-absent radius (TAR) syndrome: A clinical genetic series of 14 further cases. Impact of the associated 1q21.1 deletion on the genetic counselling
    Houeijeh, Ali
    Andrieux, Joris
    Saugier-Veber, Pascale
    David, Albert
    Goldenberg, Alice
    Bonneau, Dominique
    Fouassier, Marc
    Journel, Hubert
    Martinovic, Jelana
    Escande, Fabienne
    Devisme, Louise
    Bisiaux, Sophie
    Chaffiotte, Caroline
    Baux, Mathilde
    Kerckaert, Jean-Pierre
    Holder-Espinasse, Muriel
    Manouvrier-Hanu, Sylvie
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2011, 54 (05) : E471 - E477
  • [2] Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: A case report
    Bottillo I.
    Castori M.
    De Bernardo C.
    Fabbri R.
    Grammatico B.
    Preziosi N.
    Scassellati G.S.
    Silvestri E.
    Spagnuolo A.
    Laino L.
    Grammatico P.
    BMC Research Notes, 6 (1)
  • [3] Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case
    Elisa Tassano
    Stefania Gimelli
    Maria Teresa Divizia
    Margherita Lerone
    Carlotta Vaccari
    Aldamaria Puliti
    Giorgio Gimelli
    Molecular Cytogenetics, 8
  • [4] Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case
    Tassano, Elisa
    Gimelli, Stefania
    Divizia, Maria Teresa
    Lerone, Margherita
    Vaccari, Carlotta
    Puliti, Aldamaria
    Gimelli, Giorgio
    MOLECULAR CYTOGENETICS, 2015, 8
  • [5] PHOCOMELIA IN THROMBOCYTOPENIA-ABSENT RADIUS (TAR) SYNDROME DUE TO COMPOUND HETEROZYGOSITY FOR A 1Q21.1 MICRODELETION AND A RBM8A HYPOMORPHIC ALLELE. REPORT OF TWO CASES.
    Jobling, Rebekah
    Unger, Sheila
    Shannon, Patrick
    Toi, Ants
    Keating, Sarah
    Chitayat, David
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (08) : 1704 - 1704
  • [6] Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23.3-q24.11 and 8q24.13 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and haploinsufficiency of TRPS1, RAD21 and EXT1
    Chen, Chih-Ping
    Lin, Ming-Huei
    Chen, Yi-Yung
    Chern, Schu-Rern
    Chen, Yen-Ni
    Wu, Peih-Shan
    Pan, Chen-Wen
    Lee, Meng-Shan
    Wang, Wayseen
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2015, 54 (05): : 592 - 596