Genetic Investigation of Short Stature: A Case Report of Complex Constitutive Rearrangement Involving Chromosome 15

被引:0
|
作者
Pinto, Renata Machado [1 ,2 ,3 ]
Minasi, Lysa Bernardes [3 ,4 ]
Pinto, Irene Plaza [3 ,4 ]
da Silva, Juliana Ferreira [4 ]
da Cruz Cunha, Damiana Mirian [3 ,4 ]
Ribeiro, Cristiano Luiz [4 ]
da Silva, Claudio Carlos [3 ,4 ]
da Cruz, Aparecido Divino [3 ,4 ]
机构
[1] Univ Fed Goias, Hlth Sci PhD Program, Goiania, Go, Brazil
[2] Univ Fed Goias, Pediat, Goiania, Go, Brazil
[3] Pontifical Catholic Univ Goias, Dept Agr & Biol Sci, Replicon Res Grp, Genet Masters Program, Goiania, Go, Brazil
[4] Secretary Goias State Publ Hlth, Human Cytogenet & Mol Genet Lab, Goiania, Go, Brazil
来源
HORMONE RESEARCH IN PAEDIATRICS | 2018年 / 90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
P2-P263
引用
收藏
页码:445 / 446
页数:2
相关论文
共 50 条
  • [41] REPORT OF THE COMMITTEE-ON-THE-GENETIC-CONSTITUTION-OF-CHROMOSOME-15
    DONLON, TA
    CYTOGENETICS AND CELL GENETICS, 1991, 58 (1-2): : 624 - 642
  • [42] Complex chromosomal rearrangement involving 15q11-q13 interstitial triplication and duplication: A new case report of dysmorphic and neuropsychiatric features
    Chilakamarri, Lekha
    Mellin-Sanchez, Estrella Lizbeth
    CLINICAL CASE REPORTS, 2022, 10 (05):
  • [43] Mental retardation, tall stature and minor phenotypic abnormalities associated with a de novo complex chromosome rearrangement
    De Brasi, D
    Della Casa, R
    Titomanlio, L
    D'Agostino, A
    Perone, L
    Andria, G
    NEUROPEDIATRICS, 2000, 31 (03) : 164 - 166
  • [44] Plasmablastic Lymphoma with MYC Rearrangement Involving the CNS: A Case Report
    Doldan, Adriana
    Acevedo, Carlos
    Song, Xianyuan
    Shen, Peter
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2012, 71 (06): : 598 - 599
  • [45] Unbalanced inherited chromosome rearrangement involving chromosomes 10 and 13: a familial case
    Garcia, Blanca
    Varela, Luis
    Jose Alvarez, Ma
    Barrionuevo, Marta
    Huerta, Isabel
    CHROMOSOME RESEARCH, 2013, 21 : S38 - S39
  • [46] Prenatal diagnosis of a complex rearrangement involving three inversions and two duplications on chromosome 17
    Mascarenhas, Alexandra
    Pires, Luis Miguel
    Pinto, Marta Coelho
    Simoes, Lucia
    Matoso, Eunice
    Melo, Joana B.
    Carreira, Isabel
    CHROMOSOME RESEARCH, 2011, 19 : S222 - S222
  • [47] COMPLEX TRANSLOCATIONS INVOLVING CHROMOSOME-15 AND CHROMOSOME-17 IN ACUTE PROMYELOCYTIC LEUKEMIA
    BERNSTEIN, R
    MENDELOW, B
    PINTO, MR
    MORCOM, G
    BEZWODA, W
    BRITISH JOURNAL OF HAEMATOLOGY, 1980, 46 (02) : 311 - 314
  • [49] COMPLEX CHROMOSOME REARRANGEMENT RESULTING IN TRISOMY-15Q22-QTER
    SCARBROUGH, PR
    HOWARDPEEBLES, PN
    FINLEY, WH
    FINLEY, SC
    AMERICAN JOURNAL OF HUMAN GENETICS, 1981, 33 (06) : A119 - A119
  • [50] A COMPLEX CHROMOSOME REARRANGEMENT RESULTING IN TRISOMY 15Q22-]QTER
    HOWARDPEEBLES, PN
    SCARBROUGH, PR
    SHARPE, J
    FINLEY, WH
    FINLEY, SC
    JOURNAL OF MEDICAL GENETICS, 1982, 19 (03) : 224 - 227