A case of 9p deletion syndrome with congenital infantile glaucoma, effective method of diagnosis, and treatment

被引:2
|
作者
Jia, Xu [1 ]
Liu, Xu-Yang [2 ]
Duan, Xuan-Chu [1 ]
机构
[1] Cent S Univ, Xiangya Hosp 2, Dept Ophthalmol, Changsha 410011, Hunan, Peoples R China
[2] Jinan Univ, Shenzhen Eye Hosp, Dept Ophthalmol, Shenzhen 518040, Guangdong, Peoples R China
关键词
CHROMOSOMAL-ABNORMALITIES; CRITICAL REGION; DUPLICATION;
D O I
10.18240/ijo.2017.02.23
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
引用
收藏
页码:318 / 320
页数:3
相关论文
共 50 条
  • [41] Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome
    Starosta, Rodrigo Tzovenos
    Jensen, Nathaniel
    Couteranis, Sophia
    Slaugh, Rachel
    Easterlin, Dawn
    Tate, Victoria
    Sams, Eleanor I.
    Valle, Kostandin
    Akinwe, Titilope
    Hou, Ying-Chen Claire
    Turner, Tychele N.
    Cole, F. Sessions
    Milbrandt, Jeffrey
    Dickson, Patricia
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, : 1095 - 1105
  • [42] NEW CASE OF TRISOMY 9P SYNDROME - REPORT OF A PATIENT WITH UNUSUAL CHROMOSOME FINDINGS (46,XX-47,XX, + I (9P)) AND A PECULIAR CONGENITAL HEART DEFECT
    ORYE, E
    VERHAAREN, H
    VANEGMOND, H
    DEVLOOBLANCQUAERT, A
    CLINICAL GENETICS, 1975, 7 (02) : 134 - 143
  • [43] Prenatal sex reversal diagnosis associated with a complex chromosomal rearrangement included 9p deletion
    Guichet, A
    Haddad, G
    Rio, M
    Loiseau, HA
    Perrotin, F
    Briault, S
    Moraine, CI
    CYTOGENETICS AND CELL GENETICS, 1999, 85 (1-2): : 51 - 51
  • [44] Hepatoblastoma in a patient with a partial trisomy 9p syndrome: a case report
    Schnater, JM
    Schouten-Van Meeteren, AYN
    Heins, YM
    Aronson, DLC
    CANCER GENETICS AND CYTOGENETICS, 2005, 156 (01) : 77 - 79
  • [45] Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review
    Pugnaloni, Flaminia
    Onesimo, Roberta
    Blandino, Rita
    Putotto, Carolina
    Versacci, Paolo
    Delogu, Angelica Bibiana
    Leoni, Chiara
    Trevisan, Valentina
    Croci, Ileana
    Cali, Federica
    Digilio, Maria Cristina
    Zampino, Giuseppe
    Marino, Bruno
    Calcagni, Giulio
    GENES, 2023, 14 (01)
  • [46] 8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome
    Nakayama, Tojo
    Nabatame, Shin
    Saito, Yoshiaki
    Nakagawa, Eiji
    Shimojima, Keiko
    Yamamoto, Toshiyuki
    Kaneko, Yu
    Okumura, Keiko
    Fujie, Hiromi
    Uematsu, Mitsugu
    Komaki, Hirofumi
    Sugai, Kenji
    Sasaki, Masayuki
    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2012, 21 (04): : 295 - 299
  • [47] EPISTASIS OF CHROMOSOMAL ABNORMALITY IN A CASE AFFECTED WITH 5P SYNDROME AND 9P TRISOMY SYNDROME
    HORI, M
    TAKAHASHI, E
    SUZUKI, K
    ITANI, Y
    OHDE, S
    OHNO, T
    NIITSU, N
    FUKUSHIMA, Y
    JAPANESE JOURNAL OF HUMAN GENETICS, 1986, 31 (02): : 213 - 213
  • [48] Prenatal diagnosis of nonmosaic tetrasomy 9p by microdissection and FISH:case report
    TAN Yue-qiu ~* CHEN Xiao-man ~* HU Liang GUAN Xin-yuan LU Guang-xiu Institute of Reproduction and Stem Cell Engineering
    中华医学杂志(英文版), 2007, (14) : 1281 - 1283
  • [49] Prenatal diagnosis of nonmosaic tetrasomy 9p by microdissection and FISH:case report
    TAN Yueqiu CHEN Xiaoman HU Liang GUAN Xinyuan LU Guangxiu Institute of Reproduction and Stem Cell EngineeringXiangya School of MedicineCentral South UniversityChangsha China Tan YQ Lu GXDepartment of Prenatal DiagnosisSecond Municipal Peoples Hospital of GuangzhouGuangzhou China Chen XMDepartment of Clinical OncologyUniversity of Hong KongHong KongChina Hu L Guan XY
    Chinese Medical Journal, 2007, 120 (14) : 1281 - 1283
  • [50] Prenatal diagnosis of nonmosaic tetrasomy 9p by microdissection and FISH: case report
    Tan Yue-qiu
    Chen Xiao-man
    Liang, Hu
    Guan Xin-yuan
    Lu Guang-xiu
    CHINESE MEDICAL JOURNAL, 2007, 120 (14) : 1281 - 1283