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
  • [1] INTERSTITIAL DELETION OF CHROMOSOME 4, DEL(4)(Q12Q21.1), IN A CHILD WITH MULTIPLE CONGENITAL-ABNORMALITIES
    CURTIS, MA
    QUARRELL, OWJ
    COBON, AM
    CUMMINS, M
    JOURNAL OF MEDICAL GENETICS, 1990, 27 (01) : 64 - 66
  • [2] INTERSTITIAL DELETION OF 2(Q33Q36) IN A CHILD WITH CONGENITAL-ABNORMALITIES
    GORSKI, JL
    KIYNE, M
    UHLMANN, W
    LOEFFLER, K
    GLOVER, TW
    JOURNAL OF MEDICAL GENETICS, 1989, 26 (03) : 204 - 205
  • [3] Interstitial deletion of 3q21 in a child with multiple congenital anomalies; Expanding the phenotype
    Almoosawy, Noor
    AlBalool, Haya
    Fathy, Hanan
    Ayed, Mariam
    Zakaria, Waleed
    Albaghli, Fawaz
    AlSharhan, Hind
    GENETICS IN MEDICINE, 2022, 24 (03) : S48 - S48
  • [4] Deletion 4q21.1q23 in a newborn with hypogonadotropic hypogonadism and multiple abnormalities.
    Guze, C
    Bruni, R
    Reddy, KS
    Hassan, R
    Baker, D
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 313 - 313
  • [5] Neurodevelopmental delay, musculoskeletal disorders and dysmorphia associated with a novel pathogenic interstitial deletion of chromosome 10q21.1q21.3
    Dutta, Dibyendu
    Black, Jennifer
    Montoya, Emily A.
    Burrow, Thomas Andrew
    Shieh, Joseph
    Mcgivern, Bobbi
    Raymond, Michelle
    Sheedy, Christina B.
    Smith, Scott C.
    Garg, Ria
    JOURNAL OF MEDICAL GENETICS, 2025,
  • [6] Proximal 6q interstitial deletion without mental retardation
    Myers, SM
    Challman, TD
    PEDIATRIC RESEARCH, 2004, 55 (04) : 277A - 277A
  • [7] MULTIPLE CONGENITAL-ANOMALIES MENTAL-RETARDATION (MCA/MR) SYNDROME DUE TO INTERSTITIAL DELETION 1Q
    STEINBACH, P
    WOLF, M
    SCHMIDT, H
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1984, 19 (01): : 131 - 136
  • [8] Interstitial deletion of 5q33.3q35.1 in a girl with mild mental retardation
    Spranger, S
    Rommel, B
    Jauch, A
    Bodammer, R
    Mehl, B
    Bullerdiek, J
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 93 (02): : 107 - 109
  • [9] Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion
    Wuyts, W
    Roland, D
    Lüdecke, HJ
    Wauters, J
    Foulon, M
    Van Hul, W
    Van Maldergem, L
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 113 (04): : 326 - 332
  • [10] Interstitial Deletion of 3q21 in a Kuwaiti Child with Multiple Congenital Anomalies-Expanding the Phenotype
    Almoosawy, Noor
    Albaghli, Fawaz
    Al-Balool, Haya H.
    Fathi, Hanan
    Zakaria, Waleed A.
    Ayed, Mariam
    Alsharhan, Hind
    GENES, 2023, 14 (06)