Clinical and cytogenetic characterization of a boy with a de novo pure partial trisomy 16q24.1q24.3 and complex chromosome rearrangement

被引:2
|
作者
Zhou, Yang [1 ]
Yao, Qi [2 ]
Cui, Ying-Xia [1 ]
Yao, Bing [2 ]
Fan, Kai [2 ]
Xia, Xin-Yi [1 ]
Hu, Yu-An [1 ]
Li, Xiao-Jun [1 ]
机构
[1] Nanjing Univ, Sch Med, Inst Lab Med, Jinling Hosp, Nanjing 210002, Jiangsu, Peoples R China
[2] Nanjing Univ, Sch Med, Inst Reprod Med, Jinling Hosp, Nanjing 210002, Jiangsu, Peoples R China
关键词
TRANSLOCATION; PROTEOGLYCANS; DUPLICATION; PATIENT; CHILD; 16Q;
D O I
10.1002/ajmg.a.35782
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:897 / 900
页数:4
相关论文
共 50 条
  • [1] Clinical Features of de novo Pure 16q21q24.1 Chromosome Duplication
    Carvalho, Daniel R.
    Moretto, Ana Luisa L.
    Schneider, Marcia
    Formigli, Lia M.
    CYTOGENETIC AND GENOME RESEARCH, 2021, 161 (3-4) : 160 - 166
  • [2] De novo complex genomic rearrangement on 16q24.1-q24.3 involving a duplication-triplication pattern
    Kucharczyk, Marzena
    Kochanski, Andrzej
    Jezela-Stanek, Aleksandra
    Kugaudo, Monika
    Sielska-Rotblum, Danuta
    Gutkowska, Anna
    Krajewska-Walasek, Malgorzata
    CHROMOSOME RESEARCH, 2013, 21 : S120 - S120
  • [3] A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature
    Manor, Joshua
    Dinu, Daniela
    Azamian, Mahshid S.
    Bi, Weimin
    Darilek, Sandra
    Lalani, Seema R.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2021, 185 (10) : 2903 - 2912
  • [4] Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion
    Tassano, Elisa
    Accogli, Andrea
    Panigada, Serena
    Ronchetto, Patrizia
    Cuoco, Cristina
    Gimelli, Giorgio
    MOLECULAR CYTOGENETICS, 2014, 7
  • [5] Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion
    Elisa Tassano
    Andrea Accogli
    Serena Panigada
    Patrizia Ronchetto
    Cristina Cuoco
    Giorgio Gimelli
    Molecular Cytogenetics, 7
  • [6] Molecular characterization of partial trisomy 16q24.1-qter: Clinical report and review of the literature
    Brisset, S
    Joly, G
    Ozilou, C
    Lapierre, JM
    Gosset, P
    LeLorc'h, M
    Raoul, O
    Turleau, C
    Vekemans, M
    Romana, SP
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 113 (04): : 339 - 345
  • [7] Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1
    Ochando, Isabel
    Martinez, Melanie Cristine Alonzo
    Serrano, Ana Maria
    Urbano, Antonio
    Cazorla, Eduardo
    Calvo, Dolores
    Rueda, Joaquin
    APPLICATION OF CLINICAL GENETICS, 2018, 11 : 77 - 80
  • [8] Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1
    Ochando, Isabel
    Alonzo, Melanie
    Maria Serrano, Ana
    Urbano, Antonio
    Sanchez, Marina
    Cazorla, Eduardo
    Rueda, Joaquin
    CHROMOSOME RESEARCH, 2015, 23 : S38 - S39
  • [9] Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q
    Chen, Chih-Ping
    Lin, Shuan-Pei
    Lin, Chyi-Chyanq
    Chen, Yann-Jang
    Chern, Schu-Rern
    Li, Yueh-Chun
    Hsieh, Lie-Jiau
    Lee, Chen-Chi
    Pan, Chen-Wen
    Wang, Wayseen
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (14) : 1594 - 1600
  • [10] Perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q (16q22.1→qter) and partial monosomy 20q (20q13.3→qter)
    Chen, CP
    Lin, SP
    Lin, CC
    Li, YC
    Chern, SR
    Chen, WM
    Lee, CC
    Hsieh, LJ
    Wang, WS
    PRENATAL DIAGNOSIS, 2005, 25 (02) : 112 - 118