Multiple congenital abnormalities and de novo t (3; 4) (p13; p14) translocation: Case report

被引：0
|
作者：
Bozaykut, Abdulkadir [1 ]
Seren, Lale Pulat [1 ]
Ipek, Ilke [1 ]
Sezer, Gonul [1 ]
Tunc, Nilufer [1 ]
机构：
[1] Zeynep Kamil Kadin & Cocuk Hastaliklan Egitim Ara, Istanbul, Turkey
来源：
MEDICAL JOURNAL OF BAKIRKOY | 2007年 / 3卷 / 01期
关键词：
Multiple congenital abnormalities; cytogenetic analysis; translocation;
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Chromosomal abnormalities account for a significant percentage of congenital malformations in the neonate. Here we report a male newborn that had cystic hygroma associated with dysmorphic features which were not accounted for a clinically recognizable dysmorphic syndrome. Cytogenetic analysis revealed a karyotype of 46, XY, t (3; 4) (p13; p14) translocation. Once the chromosome analysis is complete, not only the prognosis can be better defined, but the information acquired may also be used to provide risk estimates for chromosomal abnormalities in future pregnancies of the parents of the affected infant and for other relatives.
引用
收藏
页码：37 / 39
页数：3
相关论文
共 50 条
  • [1] 46,XY,t(5;13)(p14;p13)一例
    贾春澍
    李琳琳
    陈爽
    王轩
    李德军
    刘睿智
    张红国
    中华医学遗传学杂志, 2018, (06) : 878 - 878
  • [2] TRISOMY 3P14-]3PTER DUE TO TRANSLOCATION T(3,5) (P14,P15) DE-NOVO
    CANKI, N
    DEBEVEC, M
    JURETIC, M
    RAINER, S
    CLINICAL GENETICS, 1981, 19 (06) : 495 - 495
  • [3] Prenatal diagnosis of holoprosencephaly associated with a de novo balanced t(4;7)(p14;q36) translocation
    Ochando, Isabel
    Urbano, Antonio
    Bermejo, Rosa
    Vazquez, Rosario
    Sanchez, Marina
    del Junco, Laura
    Montoya, Estefania
    Rueda, Joaquin
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 102 - 102
  • [4] P13 and P14, the EMBL Beamlines for Macromolecular Crystallography at PETRA III
    Bento, Isabel
    Bourenkov, Gleb
    Cianci, Michele
    Pompidor, Guillaume
    Kallio, Johanna
    Karpics, Ivars
    Polyakova, Anna
    Fiedler, Stefan
    Schneider, Thomas R.
    ACTA CRYSTALLOGRAPHICA A-FOUNDATION AND ADVANCES, 2016, 72 : S194 - S194
  • [5] A de novo reciprocal chromosomal translocation t(3;6)(p14;q26) in the black Lucano pig
    Genualdo, Viviana
    Rossetti, Cristina
    Pauciullo, Alfredo
    Musilova, Petra
    Incarnato, Domenico
    Perucatti, Angela
    REPRODUCTION IN DOMESTIC ANIMALS, 2020, 55 (06) : 677 - 682
  • [6] Down's syndrome with myelodysplastic syndrome showing t(7;11)(p13;p14)
    Ohnishi, H
    Taki, T
    Tabuchi, K
    Kobayashi, M
    Bessho, F
    Hayashi, Y
    AMERICAN JOURNAL OF HEMATOLOGY, 2000, 65 (01) : 62 - 65
  • [7] Prenatal diagnosis of GREIG syndrome in a fetus with a de novo translocation t(5;7)(p15;p13).
    Morichon-Delvallez, N
    Gosset, P
    Delezoide, AL
    Chemouny, S
    Loison, S
    Fert-Ferrer, S
    Ozilou, C
    Dumez, Y
    Vekemans, M
    Romana, SP
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A352 - A352
  • [8] Unusual de novo t(13;15)(q12.1;p13) translocation leading to complex mosaicism including jumping translocation
    Petit, P
    Devriendt, K
    Vermeesch, JR
    De Cock, P
    Fryns, JP
    ANNALES DE GENETIQUE, 1998, 41 (01): : 22 - 26
  • [9] Anatomic origin of P13 and P14 scalp far-field potentials
    Restuccia, D
    JOURNAL OF CLINICAL NEUROPHYSIOLOGY, 2000, 17 (03) : 246 - 257
  • [10] A novel t(3;8)(p13;q21.1) translocation in a case of lipoblastoma
    Brinkman, Adam S.
    Maxfield, Bradley
    Gill, Kara
    Patel, Neha J.
    Gosain, Ankush
    PEDIATRIC SURGERY INTERNATIONAL, 2012, 28 (07) : 737 - 740
12345