Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

被引:53
|
作者
Yatsenko, SA
Cheung, SW
Scott, DA
Nowaczyk, MJM
Tarnopolsky, M
Naidu, S
Bibat, G
Patel, A
Leroy, JG
Scaglia, F
Stankiewicz, P
Lupski, JR
机构
[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[2] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA
[3] Texas Childrens Hosp, Houston, TX 77030 USA
[4] McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON, Canada
[5] McMaster Univ, Dept Med, Hamilton, ON, Canada
[6] McMaster Univ, Dept Pediat, Hamilton, ON, Canada
[7] Johns Hopkins Univ, Baltimore, MD USA
[8] Kennedy Krieger Inst, Baltimore, MD USA
[9] State Univ Ghent Hosp, Dept Med Genet, B-9000 Ghent, Belgium
关键词
D O I
10.1136/jmg.2004.028258
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页码:328 / 335
页数:8
相关论文
共 50 条
  • [41] Genotype-Phenotype Correlation in Eight New Patients With a Deletion Encompassing 2q31.1
    Mitter, Diana
    Delle Chiaie, Barbara
    Luedecke, Hermann-Josef
    Gillessen-Kaesbach, Gabriele
    Bohring, Axel
    Kohlhase, Juergen
    Caliebe, Almuth
    Siebert, Reiner
    Roepke, Albrecht
    Ramos-Arroyo, Maria A.
    Nieva, Beatriz
    Menten, Bjorn
    Loeys, Bart
    Mortier, Geert
    Wieczorek, Dagmar
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (05) : 1213 - 1224
  • [42] Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome
    Kleefstra, T
    Koolen, DA
    Nihesen, WM
    de Leeuw, N
    Hamel, BCJ
    Veltman, JA
    Sistermans, EA
    van Bokhoven, H
    van Ravenswaay, C
    de Vries, BBA
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (06) : 618 - 623
  • [43] Refinement of Genotype-Phenotype Correlation in 18 Patients Carrying a 1q24q25 Deletion
    Chatron, Nicolas
    Haddad, Veronique
    Andrieux, Joris
    Desir, Julie
    Boute, Odile
    Dieux, Anne
    Baumann, Clarisse
    Drunat, Severine
    Gerard, Marion
    Bonnet, Celine
    Leheup, Bruno
    Till, Marianne
    Rossi, Massimiliano
    Flori, Elisabeth
    Alembik, Yves
    Stewart, Helen
    McParland, Joanna
    Bernardini, Laura
    Castelluccio, Pia
    Roos, Laura
    Tumer, Zeynep
    Fagan, Kerry
    Hackett, Anna
    Bain, Nicole
    van Haeringen, Arie
    Ruivenkamp, Claudia
    Benzacken, Brigitte
    Sanlaville, Damien
    Edery, Patrick
    Aboura, Azzedine
    Schluth-Bolard, Caroline
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (05) : 1008 - 1017
  • [44] GENOTYPE-PHENOTYPE CORRELATION IN A SERIES OF 167 DELETION AND NONDELETION PATIENTS WITH PRADER-WILLI-SYNDROME
    GILLESSENKAESBACH, G
    ROBINSON, W
    LOHMANN, D
    KAYAWESTERLOH, S
    PASSARGE, E
    HORSTHEMKE, B
    HUMAN GENETICS, 1995, 96 (06) : 638 - 643
  • [45] Genotype-Phenotype Association Studies of Chromosome 8p Inverted Duplication Deletion Syndrome
    Fisch, Gene S.
    Davis, Ryan
    Youngblom, Janey
    Gregg, Jeff
    BEHAVIOR GENETICS, 2011, 41 (03) : 373 - 380
  • [46] Genotype-phenotype correlation in a newborn with de novo 3p25 deletion syndrome
    Sarkadi Edina
    Tardy Erika, P.
    Piko Henriett
    Tidrenczel Zsolt
    Bojtos Ildiko
    Kosa Janos
    Simon Judit
    ORVOSI HETILAP, 2022, 163 (12) : 478 - 483
  • [47] Phenotype-genotype correlations in chromosome 4Q deletion with involvement of c-KIT and PDGFRA genes
    Iafrate, AJ
    Vargas, SO
    LABORATORY INVESTIGATION, 2005, 85 : 8A - 8A
  • [48] Phenotype-genotype correlations in chromosome 4q deletion with involvement of c-KIT and PDGFRA genes
    Iafrate, AJ
    Vargas, SO
    MODERN PATHOLOGY, 2005, 18 : 8A - 8A
  • [49] A de novo interstitial 6q deletion: genotype-phenotype correlation utilizing array CGH
    Babameto-Laku, Anila
    Roko, Dorina
    CHROMOSOME RESEARCH, 2015, 23 : S44 - S44
  • [50] Tetralogy of fallot with absent pulmonary valve in a de novo derivative chromosome 9 with duplication of 9p13 → 9pter and deletion of 9q34.3
    Tansatit, Montakarn
    Kongruttanachok, Narisorn
    Kongnak, Walaiwan
    Arunpan, Suparp
    Maneeshote, Pikul
    Buasorn, Vanida
    Praphanphoj, Verayuth
    Shotelersuk, Vorasuk
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (18) : 1981 - 1987