A rare inherited case of 4q deletion detected by GTG and array analyses in a newborn

被引:0
|
作者
Cobos, Manuela Ariza [1 ]
Miguez, Luz [1 ]
Banos, Francisco [1 ]
Pardo, Victoria [1 ]
Lois, Cristina [1 ]
Martinez, Raquel [2 ]
Macia, Manuel [3 ]
Dominguezi, Fernando [1 ]
机构
[1] Fdn Publ Galega Med Xen, Prenatal Diagnoses, Santiago De Compostela, Spain
[2] Hosp Cristal Paediat, Orense, Spain
[3] Univ Santiago de Compostela, Hosp Clin, Gynecol, Santiago De Compostela, Spain
关键词
4q deletion syndrome; Array analyses;
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
1.P32
引用
收藏
页码:S54 / S54
页数:1
相关论文
共 50 条
  • [21] Molecular and Clinical Characterization of a Recurrent Cryptic Unbalanced t(4q;18q) Resulting in an 18q Deletion and 4q Duplication
    Horbinski, Craig
    Carter, Erika M.
    Heard, Patricia L.
    Sathanoori, Malini
    Hu, Jie
    Vockley, Jerry
    Gunn, Shelly
    Hale, Daniel E.
    Surti, Urvashi
    Cody, Jannine D.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (22) : 2898 - 2904
  • [22] DUBOWITZ SYNDROME AND PARTIAL DELETION 4Q(Q28-]Q313)
    DELREY, G
    OPELLI, S
    HEINRICH, J
    COCO, R
    PEDIATRIC RESEARCH, 1988, 23 (06) : 650 - 650
  • [23] Partial trisomy 4q: a case report
    Cui Ying-xia
    Wang Yun-hua
    Hao Li-jun
    Hou Lin
    Li Wei
    Huang Yun-feng
    CHINESE MEDICAL JOURNAL, 2006, 119 (13) : 1136 - 1139
  • [24] Partial trisomy 4q:a case report
    CUI Ying-xia
    中华医学杂志(英文版), 2006, (13) : 1136 - 1139
  • [25] Ocular and Systemic Anomalies in an Infant With 4q Deletion and 3q Duplication: Case Report and Review of Literature
    Householder, Nicholas
    Vaclaw, Sawyer
    Ruppert, Misty
    Chavali, Santosh
    Tonk, Vijay
    Abikoye, Temiloluwa
    JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS, 2024, 61 (06) : E66 - E74
  • [26] Terminal deletion of 4q in a child with ring chromosome 4 and minor malformations
    Barrionuevo Gonzalez, Marta
    Ramirez Fernandez, Joaquin
    Garcia Garcia, Blanca
    Alvarez Blanco, Ma Jose
    Varela Sanz, Luis Antonio
    Coca Martin, Carmen
    Villalon Villaroel, Concepcion
    Garcia Galloway, Eva
    Miguel Garcia-Sagredo, Jose
    CHROMOSOME RESEARCH, 2011, 19 : S94 - S95
  • [27] Partial trisomy 4q:a case report
    CUI Yingxia WANG Yunhua HAO Lijun HOU Lin LI Wei and HUANG Yunfeng Department of Reproduction and Genetics of Jinling Hospital Medical College of Nanjing University Nanjing China
    ChineseMedicalJournal, 2006, (13) : 1136 - 1139
  • [28] A case of deletion of 4q and duplication of 10q presenting with tetralogy of Fallot, developmental delay and facial dysmorphism
    Simsek, Pelin Ozleni
    Utine, Gulen Eda
    Boduroglu, Koray
    CHROMOSOME RESEARCH, 2011, 19 : S83 - S84
  • [29] Cerebellar ataxia and mental retardation in a child with an inherited satellited chromosome 4q
    Faivre, L
    Radford, I
    Viot, G
    Edery, P
    Munnich, A
    Tardieu, M
    Vekemans, M
    ANNALES DE GENETIQUE, 2000, 43 (01): : 35 - 38
  • [30] "Opitz C Syndrome and Pseudohypoaldosteronism" Is Caused by a Chromosome 4q Deletion
    de Ravel, Thomy
    Balikova, Irina
    Van Driessche, Jozef
    Vermeesch, Joris
    Fryns, Jean-Pierre
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (06) : 1315 - 1316