Twins with mental retardation and an interstitial deletion 7q34q36.2 leading to the diagnosis of long QT syndrome

被引：14
|
作者：
Bisgaard, AM
Rackauskaite, G
Thelle, T
Kirchhoff, M
Bryndorf, T
机构：
[1] Rigshosp 4062, Dept Clin Genet, DK-2100 Copenhagen O, Denmark
[2] Dept Pediat, Viborg, Denmark
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2006年 / 140A卷 / 06期
关键词：
D O I：
10.1002/ajmg.a.31130
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：644 / 648
页数：5
相关论文
共 50 条
  • [41] DENOVO INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-7 - 46,XY,DEL(7)(Q23-Q32)
    MARTINPONT, B
    PILCZER, C
    DANDINE, M
    TAMBOISE, A
    ANNALES DE GENETIQUE, 1985, 28 (04): : 251 - 253
  • [42] Two sibs with currarino syndrome with 7q34 deletion due to maternal t(7;14)(q34;p13)
    Silan
    Zafer, C.
    Kuru, D.
    Mahmutyazicioglu, K.
    Hacihanefioglu, S.
    CHROMOSOME RESEARCH, 2007, 15 : 120 - 120
  • [43] Two Siblings with Currarino Syndrome with 7q34 Deletion Due to Maternal t(7;14)(q34;p13)
    Yildirim, S.
    Topaloglu, N.
    Silan, F.
    Kuru, D.
    HONG KONG JOURNAL OF PAEDIATRICS, 2014, 19 (03) : 181 - 184
  • [44] INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-16 - A PROPOSAL THAT BAND Q22 IS CRITICAL FOR 16Q DELETION SYNDROME
    NARITOMI, K
    MIYAGI, C
    IZUMIKAWA, Y
    HIRAYAMA, K
    JAPANESE JOURNAL OF HUMAN GENETICS, 1988, 33 (02): : 218 - 218
  • [45] Familial cryptic translocation with deletion 4q33→4qter and duplication 7q34→7qter in brothers with mental retardation, macrocephaly and iris coloboma
    Moog, U
    Engelen, JJM
    Lantman-de Valk, HMJV
    Driessen, SD
    Fryns, JP
    CLINICAL DYSMORPHOLOGY, 2003, 12 (01) : 35 - 39
  • [46] Deletion of chromosome band 7q33 results in a syndrome of mild to moderate mental retardation and mild dysmorphic features: a new contiguous gene deletion syndrome?
    Schonberg, SA
    Tifft, CJ
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A343 - A343
  • [47] Mental and psychomotoric retardation in two brothers with pure partial trisomy 7q32-q34 due to a maternal insertion (14;7)
    Löffler, J
    Utermann, B
    Duba, HC
    Mayr, U
    Utermann, G
    Erdel, M
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 91 (04): : 291 - 297
  • [48] A CASE OF PARTIAL DELETION OF THE LONG ARM OF CHROMOSOME 7 (7Q34-]7QTER)
    MADSEN, HN
    LUNDSTEEN, C
    STEINRUD, J
    DANISH MEDICAL BULLETIN, 1983, 30 (01): : 14 - 16
  • [49] A familial interstitial deletion of 21q. It is possible for a recessive gene responsible for mental retardation to exist within 21q11-21.
    Wakui, K
    Kubota, T
    Hidaka, E
    Ishikawa, M
    Katsuyama, T
    Fukushima, Y
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A362 - A362
  • [50] Interstitial Deletion of Chromosome 7q and the Lack of Association with Down Syndrome Screening Markers
    Hafen, L. Brent
    Rose, Nancy C.
    FETAL DIAGNOSIS AND THERAPY, 2010, 28 (01) : 47 - 47
12345