Detection of an Interstitial 3q21.1-q21.3 Deletion in a Child With Multiple Congenital Abnormalities, Mental Retardation, Pancytopenia, and Myelodysplasia

被引:13
|
作者
Callier, P. [1 ]
Faivre, L. [1 ]
Marle, N. [1 ]
Thauvin-Robinet, C. [1 ]
Guy, J. [1 ]
Mosca, A. L. [1 ]
D'Athis, P. [2 ]
Masurel-Paulet, A. [1 ]
Assous, D. [1 ]
Teyssier, J. R. [1 ]
Huet, F. [3 ]
Mugneret, F. [1 ]
机构
[1] Hop Bocage, Dept Genet, Dijon, France
[2] Hop Bocage, Serv Biostat & Informat Med, Dijon, France
[3] Hop Enfants, Dijon, France
关键词
TRANSCRIPTION FACTOR GATA-1; T(1/3)(P36; Q21); IDENTIFICATION; LEUKEMIA; MUTATION; PATIENT; 1P36.3; MEL1; GENE;
D O I
10.1002/ajmg.a.32857
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:1323 / 1326
页数:4
相关论文
共 50 条
  • [31] Characterization of an Interstitial 4q32 Deletion in a Patient With Mental Retardation and a Complex Chromosome Rearrangement
    Tzschach, Andreas
    Menzel, Corinna
    Erdogan, Fikret
    Istifli, Erman Salih
    Rieger, Martin
    Ovens-Raeder, Angela
    Macke, Alfons
    Ropers, Hans-Hilger
    Ullmann, Reinhard
    Kalscheuer, Vera
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (04) : 1008 - 1012
  • [32] MODERATE MENTAL-RETARDATION AND MILD DYSMORPHIC SYNDROME IN PROXIMAL-7Q INTERSTITIAL DELETION
    FRYNS, JP
    KLECZKOWSKA, A
    VANDENBERGHE, H
    ANNALES DE GENETIQUE, 1987, 30 (02): : 111 - 112
  • [33] Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms
    Lespinasse, James
    Gimelli, Stefania
    Bena, Frederique
    Antonarakis, Stylianos E.
    Ansermet, Francois
    Paoloni-Giacobino, Ariane
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2009, 52 (01) : 49 - 52
  • [34] 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
  • [35] Detection of chromosome 5q interstitial deletion of 5q14.3-q31.1 by chromosome microarray analysis in a second-trimester fetus with multiple congenital anomalies and a literature review of chromosome 5q interstitial deletion syndrome
    Chen, Chih-Ping
    Huang, Jian-Pei
    Wu, Fang-Tzu
    Wu, Peih-Shan
    Pan, Yen-Ting
    Wang, Wayseen
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2024, 63 (06): : 918 - 921
  • [36] Interstitial deletion 5p14.1-p15.2 and 5q14.3-q23.2 in a patient with clubfoot, blepharophimosis, arthrogryposis, and multiple congenital abnormalities
    Balta, Burhan
    Erdogan, Murat
    Ergul, Ayse B.
    Sahin, Yavuz
    Ozcan, Alper
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (10) : 2798 - 2802
  • [37] INTERSTITIAL DELETION OF CHROMOSOME-13 (Q12-]Q14) IN A GIRL WITH UNILATERAL RETINOBLASTOMA AND MULTIPLE ABNORMALITIES
    GIMELLI, G
    CUOCO, C
    TARATETA, A
    BUFFONI, L
    GHISOLFI, A
    BIANCHI, P
    RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS, 1982, 8 (02): : 169 - 173
  • [38] INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-18, DEL(18)(Q12.2Q21.1) - A REPORT OF 3 CASES OF AN AUTOSOMAL DELETION WITH A MILD PHENOTYPE
    SCHINZEL, A
    BINKERT, F
    LILLINGTON, DM
    SANDS, M
    STOCKS, RJ
    LINDENBAUM, RH
    MATTHEWS, H
    SHERIDAN, H
    JOURNAL OF MEDICAL GENETICS, 1991, 28 (05) : 352 - 355
  • [39] CAT-LIKE CRY AND MENTAL-RETARDATION OWING TO 7Q INTERSTITIAL DELETION (7Q22-]7Q32)
    ABUELO, DN
    PADREMENDOZA, T
    JOURNAL OF MEDICAL GENETICS, 1982, 19 (06) : 473 - 476
  • [40] Cryptic interstitial deletion of chromosome 16q12: a novel recognizable deafness/mental retardation syndrome?
    Rio, M
    Lyonnet, S
    Prieur, M
    Briault, S
    Vekemans, M
    Munnich, A
    Colleaux, L
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 289 - 289