1q21.1 Deletions and Duplications in 2 Siblings with Psychiatric Problems

被引：3
|
作者：
Kaymakcalan, Hande [1 ]
Li, Peining [2 ]
机构：
[1] Demiroglu Bilim Univ, Dept Pediat, Pediat Genet Unit, Istanbul, Turkey
[2] Yale Univ, Dept Clin Genet, New Haven, CT USA
来源：
INDIAN JOURNAL OF PEDIATRICS | 2019年 / 86卷 / 11期
关键词：
D O I：
10.1007/s12098-019-03014-2
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：1068 / 1068
页数：1
相关论文
共 50 条
  • [41] Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders
    Yoon, Joy
    Mao, Yingwei
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2021, 22 (11)
  • [42] Copy number variation at 1q21.1 results in a spectrum of developmental abnormalities
    Aldinger, Kimbery A.
    CLINICAL GENETICS, 2009, 75 (05) : 425 - 427
  • [43] Case series of 1q21.1 microdeletion: Genomic rearrangement of uncertain significance?
    Nik-Zainal, Serena
    Parkin, G.
    Clarkson, A.
    Bateman, M.
    Simonic, I.
    Mehta, S.
    Firth, H.
    Willatt, L.
    JOURNAL OF MEDICAL GENETICS, 2007, 44 : S59 - S59
  • [44] Hyponatremia: An Unusual Presentation in a Neonate With Chromosome 1q21.1 Deletion Syndrome
    Alzarka, Bakri
    Usala, Rachel
    Whitehead, Matthew T.
    Ahn, Sun-Young
    FRONTIERS IN PEDIATRICS, 2018, 6
  • [45] Narrowing the Genetic Causes of Language Dysfunction in the 1q21.1 Microduplication Syndrome
    Benitez-Burraco, Antonio
    Barcos-Martinez, Montserrat
    Espejo-Portero, Isabel
    Fernandez-Urquiza, Maite
    Torres-Ruiz, Raul
    Rodriguez-Perales, Sandra
    Salud Jimenez-Romero, Ma
    FRONTIERS IN PEDIATRICS, 2018, 6
  • [46] Langerhans cell histiocytosis in a pediatric patient with thrombocytopenia-absent radius syndrome and 1q21.1 deletion: case report and proposal of a rapid molecular diagnosis of 1q21.1 deletion
    Giordano, Paola
    Cecinati, Valerio
    Grassi, Massimo
    Giordani, Lucia
    De Mattia, Delia
    Santoro, Nicola
    IMMUNOPHARMACOLOGY AND IMMUNOTOXICOLOGY, 2011, 33 (04) : 754 - 758
  • [47] Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 1q21.1 microdeletions and microduplications
    Yue, Fagui
    Yang, Xiao
    Jiang, Yuting
    Li, Shibo
    Liu, Ruizhi
    Zhang, Hongguo
    FRONTIERS IN MEDICINE, 2023, 10
  • [48] 1q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New Case
    Minelli, Maria
    de Volo, Chiara Palka Bayard
    Alfonsi, Melissa
    Capanna, Serena
    Morizio, Elisena
    Miscia, Maria Enrica
    Lisi, Gabriele
    Stuppia, Liborio
    Gatta, Valentina
    CURRENT ISSUES IN MOLECULAR BIOLOGY, 2025, 47 (01)
  • [49] 1q21.1微缺失胎儿合并长骨发育异常1例
    龚亚飞
    宋艳琴
    李志华
    孙筱放
    陈欣洁
    广东医学, 2014, 35 (23) : 3771 - 3771
  • [50] Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease
    Christiansen, J
    Dyck, JD
    Elyas, BG
    Lilley, M
    Bamforth, JS
    Hicks, M
    Sprysak, KA
    Tomaszewski, R
    Haase, SM
    Vicen-Wyhony, LM
    Somerville, MJ
    CIRCULATION RESEARCH, 2004, 94 (11) : 1429 - 1435
12345