The Significance of Family History in the Diagnosis of Hereditary Rare Diseases: A Case Report of Misdiagnosed 1q21.1 Microdeletion Syndrome and Literature Review

被引:0
|
作者
Yuan, Ke [1 ]
Wang, Chunlin [1 ]
机构
[1] Zhejiang Univ, Affiliated Hosp 1, Coll Med, Hangzhou, Peoples R China
来源
HORMONE RESEARCH IN PAEDIATRICS | 2024年 / 97卷
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
P3-148
引用
收藏
页码:603 / 603
页数:1
相关论文
共 50 条
  • [41] Late onset psychosis in a case of 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome: A case report and literature review
    Das, Soumitra
    Shet, Vallabh
    Palakodeti, Sanjana
    Pokhrel, Prakriti
    Ansari, Maliha
    Qutaish, Osama
    Rao, Mukund
    Ravilla, Shyam
    SAGE OPEN MEDICAL CASE REPORTS, 2024, 12
  • [42] DUP(1Q)(Q42-]QTER) SYNDROME - CASE-REPORT AND REVIEW OF LITERATURE
    KENNERKNECHT, I
    BARBI, G
    RODENS, K
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 47 (08): : 1157 - 1160
  • [43] De Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the Literature
    Corriveau, Melina L.
    Korb, Joshua C.
    Michener, Sydney L.
    Owen, Nichole M.
    Wilson, Erica L.
    Kubala, Jamie
    Turner, Alicia
    Takacs, Danielle S.
    Potocki, Lorraine
    Swann, John W.
    Xue, Mingshan
    Dai, Hongzheng
    Chao, Hsiao-Tuan
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2025,
  • [44] A novel variant in ALMS1 in a patient with Alstrom syndrome and prenatal diagnosis for the fetus in the family: A case report and literature review
    Zhou, Cong
    Xiao, Yuanyuan
    Xie, Hanbing
    Liu, Shanling
    Wang, Jing
    MOLECULAR MEDICINE REPORTS, 2020, 22 (04) : 3271 - 3276
  • [45] MLH1 epimutation is a rare mechanism for Lynch syndrome: A case report and review of the literature
    Zyla, Roman
    Graham, Tracy
    Aronson, Melyssa
    Velsher, Lea
    Mrkonjic, Miralem
    Turashvili, Gulisa
    GENES CHROMOSOMES & CANCER, 2021, 60 (09): : 635 - 639
  • [46] Novel ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature
    Xiao, Xue-Wen
    Du, Juan
    Jiao, Bin
    Liao, Xin-Xin
    Zhou, Lu
    Liu, Xi-Xi
    Yuan, Zhen-Hua
    Guo, Li-Na
    Wang, Xin
    Shen, Lu
    Lin, Zhang-Yuan
    WORLD JOURNAL OF CLINICAL CASES, 2019, 7 (11) : 1358 - 1366
  • [47] Novel ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature
    Xue-Wen Xiao
    Juan Du
    Bin Jiao
    Xin-Xin Liao
    Lu Zhou
    Xi-Xi Liu
    Zhen-Hua Yuan
    Li-Na Guo
    Xin Wang
    Lu Shen
    Zhang-Yuan Lin
    World Journal of Clinical Cases, 2019, (11) : 1358 - 1366
  • [48] Diagnosis of hereditary diffuse leukoencephalopathy with neuroaxonal spheroids based on next-generation sequencing in a family Case report and literature review
    Shi, Tianji
    Li, Jia
    Tan, Cheng
    Chen, Jiajun
    MEDICINE, 2019, 98 (22)
  • [49] Marfan Syndrome: Report of a Complex Phenotype Due to a 15q21.1 Contiguos Gene Deletion Encompassing FBN1, and Literature Review
    Dordoni, Chiara
    Ciaccio, Claudia
    Santoro, Graziano
    Venturini, Marina
    Cavallari, Ugo
    Ritelli, Marco
    Colombi, Marina
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (01) : 200 - 206
  • [50] Prenatal diagnosis of a terminal chromosome 1 (q42-q44) deletion: original case report and review of the literature
    van Linthout, C.
    Emonard, V.
    Gatot, J. S.
    Capelle, X.
    Kridelka, F.
    Emonts, P.
    Segghaye, M. -C.
    FACTS VIEWS AND VISION IN OBGYN, 2016, 8 (02): : 101 - 103