A girl with partial trisomy 5q35→qter and partial trisomy 13pter→q31 derived via a maternal balanced translocation

被引:0
|
作者
Atsushi Uchiyama
Noriyuki Haneda
Kyoko Saito
Satomi Miyamoto
Yuichi Takusa
Rie Kanai
Masahiko Kimura
Hitoshi Sejima
Seiji Yamaguchi
机构
[1] Shimane Medical University,Department of Paediatrics
来源
关键词
Congenital Heart Disease; Polydactyly; Nasal Bridge; Fetal Haemoglobin; Partial Trisomy;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:360 / 361
页数:1
相关论文
共 50 条
  • [11] PARTIAL TRISOMY 14 (Q23-]QTER) VIA SEGREGATION OF A 14/X TRANSLOCATION
    COHEN, MM
    CHARROW, J
    BALKIN, NE
    HARRIS, CJ
    AMERICAN JOURNAL OF HUMAN GENETICS, 1983, 35 (04) : 635 - 644
  • [12] A NEW CASE OF PARTIAL TRISOMY-19Q (Q13.2-]QTER) OWING TO AN UNUSUAL MATERNAL TRANSLOCATION
    VALERIO, D
    LAVORGNA, F
    SCALONA, M
    CONTE, A
    JOURNAL OF MEDICAL GENETICS, 1993, 30 (08) : 697 - 699
  • [13] PARTIAL TRISOMY 9Q DUE TO A DIRECT Q12-] Q31 DUPLICATION
    DADALT, L
    MINERVINI, M
    DEPASCALE, A
    BACCICHETTI, C
    LENZINI, E
    TENCONI, R
    RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS, 1981, 7 (04): : 488 - 489
  • [14] A case of partial trisomy 9pter → q13 due to paternal balanced translocation t (9;21) (q13;q21)
    Woo, Kwang-Sook
    Kim, Kyung-Eun
    Kwon, Eun-Young
    Kim, Joong-Pyo
    Han, Jin-Yeong
    KOREAN JOURNAL OF LABORATORY MEDICINE, 2008, 28 (02): : 155 - 159
  • [15] Partial Trisomy 1q41-qter and Partial Trisomy 9pter-9q21.32 in a Newborn Infant: An Array CGH Analysis and Review
    Akalin, Ibrahim
    Bozdag, Senol
    Spielmann, Malte
    Basaran, Sarenur Yilmaz
    Nanda, Indrajit
    Klopocki, Eva
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (02) : 490 - 494
  • [16] PARTIAL TRISOMY 18(PTER-]Q122) OF MATERNAL ORIGIN
    JAFFRAY, JY
    GENEIX, A
    GOUMY, P
    PERISSEL, B
    MENUT, G
    MALET, P
    ANNALES DE GENETIQUE, 1980, 23 (04): : 224 - 227
  • [17] Partial 3q-trisomy (q22-qter) monosomy 13q (q32-qter) by translocation between chromosome 3 and 13
    Kandara, K
    Prieur, F
    Berger, C
    ARCHIVES DE PEDIATRIE, 1997, 4 (09): : 899 - 900
  • [18] PARTIAL TRISOMY FOR DISTAL-2Q AND PROXIMAL-21Q PRESENTING AS A TERTIARY TRISOMY RESULTING FROM A MATERNAL BALANCED TRANSLOCATION
    ISRAEL, JN
    DILLARD, LJ
    AMERICAN JOURNAL OF HUMAN GENETICS, 1983, 35 (06) : A135 - A135
  • [19] TRISOMY 4Q31-]QTER DUE TO A MATERNAL 4/8 TRANSLOCATION
    ANNEREN, G
    LUBECK, PO
    HEREDITAS, 1984, 100 (01): : 45 - 49
  • [20] PARTIAL TRISOMY 12Q DUE TO BALANCED MATERNAL 9-12 TRANSLOCATION
    MASUNO, M
    FUKUSHIMA, Y
    SUGIO, Y
    KUROKI, Y
    JAPANESE JOURNAL OF HUMAN GENETICS, 1986, 31 (02): : 213 - 214