TENTATIVE ASSIGNMENT OF A LOCUS FOR RUBINSTEIN-TAYBI SYNDROME TO 16P13.3 BY A DENOVO RECIPROCAL TRANSLOCATION, T(7-16)(Q34-P13.3)

被引：0
|
作者：
TOMMERUP, N
VANDERHAGEN, CB
HEIBERG, A
机构：
[1] ULLEVAL HOSP,DEPT MED GENET,N-0315 OSLO 3,NORWAY
[2] UNIV OSLO,INST MED GENET,OSLO 3,NORWAY
[3] FRAMBU HEALTHCTR,SIGGERUD,NORWAY
来源：
CYTOGENETICS AND CELL GENETICS | 1991年 / 58卷 / 3-4期
关键词：
D O I：
暂无
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
引用
收藏
页码：2002 / 2003
页数：2
相关论文
共 42 条
  • [21] Reciprocal translocation t(7;16)(q21.2; p13.3) in an infertile man
    Mikelsaar, Ruth
    Pauklin, Mikk
    Lissitsina, Jelena
    Punab, Margus
    FERTILITY AND STERILITY, 2006, 86 (03) : 719.e9 - 719.e11
  • [22] Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome
    Blough, RI
    Petrij, F
    Dauwerse, JG
    Milatovich-Cherry, A
    Weiss, L
    Saal, HM
    Rubinstein, JH
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 90 (01): : 29 - 34
  • [23] Cryptic Microdeletion of the CREBBP Gene from t(1;16) (p36.2;p13.3) as a Novel Genetic Defect Causing Rubinstein-Taybi Syndrome
    Kim, Suk Ran
    Kim, Hee-Jin
    Kim, Yae-Jean
    Kwon, Jeong-Yi
    Kim, Jong-Won
    Kim, Sun-Hee
    ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2013, 43 (04): : 450 - 456
  • [24] Rubinstein-Taybi syndrome and familial Mediterranean fever in a single patient: Two distinct genetic diseases located on chromosome 16p 13.3
    Kalyoncu, Umut
    Tufan, Abdurrahman
    Karadag, Omer
    Kisack, Bunyamin
    Akdogan, Ali
    Calguneri, Meral
    JOURNAL OF THE NATIONAL MEDICAL ASSOCIATION, 2006, 98 (10) : 1692 - 1693
  • [25] Construction of a 850-kb cosmid contig surrounding the CBP gene, involved in Rubinstein-Taybi syndrome and ANLL M4/M5 with t(8;16)(p11;p13.3)
    Giles, RH
    Petrij, F
    Dauwerse, JG
    Beverstock, GC
    Hagemeijer, A
    Peters, DJM
    Breuning, MH
    CYTOGENETICS AND CELL GENETICS, 1996, 72 (04): : 12 - 12
  • [26] Refractory Kaposiform Hemangioendothelioma Associated with the Chromosomal Translocation t(13;16)(q14;p13.3)
    Zhou, Shengmei
    Wang, Larry
    Panossian, Andre
    Anselmo, Dean
    Wu, Samuel
    Venkatramani, Rajkumar
    PEDIATRIC AND DEVELOPMENTAL PATHOLOGY, 2016, 19 (05) : 417 - 420
  • [27] Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3)
    Holinski-Feder, E
    Reyniers, E
    Uhrig, S
    Golla, A
    Wauters, J
    Kroisel, P
    Bossuyt, P
    Rost, I
    Jedele, K
    Zierler, H
    Schwab, S
    Wildenauer, D
    Speicher, MR
    Willems, PJ
    Meitinger, T
    Kooy, RF
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (01) : 16 - 25
  • [28] Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation t(3;16)(q29;p13.3).
    Kooy, RF
    Reyniers, E
    Uhrig, S
    Schoepen, I
    Golla, A
    Wauters, J
    Kroisel, P
    Bossuyt, P
    Rost, I
    Jedele, K
    Zierler, H
    Schwab, S
    Wildenauer, D
    Speicher, M
    Willems, PJ
    Meitinger, T
    Holinkski-Feder, E
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A168 - A168
  • [29] Cytogenetic analyses in infertile males: survey and a case with t(7;16)(q21.2;p13.3)
    Mikelsaar, R.
    Lissitsina, I.
    Pauklin, M.
    Punab, M.
    CHROMOSOME RESEARCH, 2005, 13 : 57 - 58
  • [30] A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3
    Williams, Lacey S.
    Kim, Hyung-Goo
    Kalscheuer, Vera M.
    Tuck, J. Matthew
    Chorich, Lynn P.
    Sullivan, Megan E.
    Falkenstrom, Allison
    Reindollar, Richard H.
    Layman, Lawrence C.
    MOLECULAR CYTOGENETICS, 2016, 9
12345