DENOVO INV(2)(P21Q31) ASSOCIATED WITH ISOLATED BILATERAL MICROPHTHALMIA AND CATARACTS

被引：5
|
作者：
WEAVER, RG
RAO, N
THOMAS, IT
PETTENATI, MJ
机构：
[1] WAKE FOREST UNIV,BOWMAN GRAY SCH MED,MED CTR,DEPT PEDIAT,MED GENET SECT,300 S HAWTHORNE RD,WINSTON SALEM,NC 27103
[2] WAKE FOREST UNIV,BOWMAN GRAY SCH MED,MED CTR,DEPT OPHTHALMOL,WINSTON SALEM,NC 27103
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 40卷 / 04期
关键词：
CHROMOSOME-2; INVERSION; EYE ABNORMALITIES; EYE DEVELOPMENT;
D O I：
10.1002/ajmg.1320400428
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report on a patient with bilateral microphthalmia and unusual cataracts with a de novo pericentric inversion of chromosome (2)(p21q31). A literature review of previous associations of eye abnormalities and anomalies of chromosome 2 suggests probable gene locations for eye development.
引用
收藏
页码：509 / 512
页数：4
相关论文
共 50 条
  • [1] A case of childhood acute myeloid leukemia associated with inversion (7)(p21q31)
    Preiss, BS
    Hasle, H
    Sorensen, AG
    Heil, M
    Kerndrup, GB
    CANCER GENETICS AND CYTOGENETICS, 1999, 108 (02) : 144 - 148
  • [2] A SPORADIC CASE OF WAARDENBURG SYNDROME TYPE-I ASSOCIATED WITH DENOVO INV(2)(Q35Q37.3)
    ISHIKIRIYAMA, S
    TONOKI, H
    SHIBUYA, Y
    CHIN, S
    HARADA, N
    ABE, K
    NIIKAWA, N
    CYTOGENETICS AND CELL GENETICS, 1989, 51 (1-4): : 1018 - 1018
  • [3] 46,XX,inv(2)(p25;q31),inv(9)(p11;q13)一例
    陈亚军
    苏慧
    张锦泉
    朱庆义
    中华医学遗传学杂志, 2004, (04) : 64 - 64
  • [4] Pericentric inversion inv(2) (p11.2q21) associated with Treacher Collins-Franceschetti syndrome
    Sawada, H
    Kawashima, Y
    Yamamoto, Y
    Egi, T
    Nagata, I
    Kanzaki, S
    PEDIATRICS INTERNATIONAL, 2002, 44 (03) : 328 - 329
  • [5] COMPLETE TRISOMY-5P OWING TO DENOVO TRANSLOCATION T(5-22)(Q11-P11) WITH ISOCHROMOSOME-5P ASSOCIATED WITH A FAMILIAL PERICENTRIC-INVERSION OF CHROMOSOME-2, INV 2(P21Q11)
    ORYE, E
    BENOIT, Y
    VANMELE, B
    JOURNAL OF MEDICAL GENETICS, 1983, 20 (05) : 394 - 396
  • [6] DELETION OF BAND 5Q21 IN ASSOCIATION WITH A DENOVO TRANSLOCATION INVOLVING 2P AND 5Q
    YUNG, JF
    WILLIAMSON, N
    SALAFSKY, I
    HOO, JJ
    JOURNAL OF MEDICAL GENETICS, 1988, 25 (08) : 570 - 572
  • [7] A new case of myelodysplastic syndrome associated with t(3;3)(q21;q26) and inv(11)(p15q22)
    Monti, Valentina
    Bagnoli, Filippo
    Bolli, Niccolo'
    Vittoria, Laura
    Stioui, Sabine
    Moiraghi, Maria Luisa
    Pruneri, Giancarlo
    Testi, Maria Adele
    TUMORI JOURNAL, 2020, 106 (06): : NP18 - NP22
  • [8] FISH characterization of a supernumerary r(1)(::cen→q22::q22→sq21::) chromosome associated with multiple anomalies and bilateral cataracts
    Finelli, P
    Cavalli, P
    Giardino, D
    Gottardi, G
    Natacci, F
    Savasta, S
    Larizza, L
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 104 (02): : 157 - 164
  • [9] Isolated Bilateral Rocker Bottom Feet Associated With 2q13 Microdeletion
    Sherer, David M.
    Hsieh, Vicky
    Muppala, Reshma
    Granderson, Freda
    Dalloul, Mudar
    JOURNAL OF ULTRASOUND IN MEDICINE, 2020, 39 (03) : 637 - 638
  • [10] Prenatal diagnosis of a fetus with two balanced rearrangements: 46,XX, t(2;14)(q31;q24)pat,inv(8)(p21;q22)mat.
    Medearis, AL
    Rahman, MR
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A373 - A373
12345