An analphoid marker chromosome shown to be an inverted duplication 8q23qter with a neocentromere.

被引:0
|
作者
Sulcova, V
Reddy, KS
Schwartz, S
Noble, J
Lin, H
机构
[1] Case Western Reserve Univ, Sch Med, Dept Genet, Cleveland, OH 44106 USA
[2] Case Western Reserve Univ, Sch Med, Ctr Human Genet, Cleveland, OH 44106 USA
[3] Quest Diagnost Inc, Cytogenet, San Juan Capist, CA USA
[4] Univ Hosp Cleveland, Cleveland, OH 44106 USA
[5] Harbor UCLA Med Ctr, Dept Med Genet, Torrance, CA 90509 USA
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
2026
引用
收藏
页码:A358 / A358
页数:1
相关论文
共 31 条
  • [21] Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report
    Sabita K Murthy
    Ashok K Malhotra
    Preenu S Jacob
    Sehba Naveed
    Eman EM Al-Rowaished
    Sara Mani
    Shabeer Padariyakam
    R Pramathan
    Ravi Nath
    Mahmoud Taleb Al-Ali
    Lihadh Al-Gazali
    [J]. Molecular Cytogenetics, 1
  • [22] Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report
    Murthy, Sabita K.
    Malhotra, Ashok K.
    Jacob, Preenu S.
    Naveed, Sehba
    Al-Rowaished, Eman E. M.
    Mani, Sara
    Padariyakam, Shabeer
    Pramathan, R.
    Nath, Ravi
    Al-Ali, Mahmoud Taleb
    Al-Gazali, Lihadh
    [J]. MOLECULAR CYTOGENETICS, 2008, 1 (1)
  • [23] A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines
    Gimelli, G.
    Giorda, R.
    Beri, S.
    Gimelli, S.
    Zuffardi, O.
    [J]. EUROPEAN JOURNAL OF MEDICAL GENETICS, 2007, 50 (04) : 264 - 273
  • [24] A case of childhood acute myeloid leukemia AML (M5) with a neocentric chromosome neo(1)(qter→q23∼24::q23∼24→q43→neo→q43→qter) and tetrasomy of chromosomes 8 and 21
    de Figueiredo, Amanda Faria
    Mkrtchyan, Hasmik
    Liehr, Thomas
    Soares Ventura, Eliane Maria
    Marques-Salles, Terezinha de Jesus
    Santos, Neide
    Ribeiro, Raul Correa
    Abdelhay, Eliana
    Macedo Silva, Maria Luiza
    [J]. CANCER GENETICS AND CYTOGENETICS, 2009, 193 (02) : 123 - 126
  • [25] Tetrasomy 13q32.2qter Due to an Apparent Inverted Duplicated Neocentric Marker Chromosome in an Infant with Hemangiomas, Failure to Thrive, Laryngomalacia, and Tethered Cord
    Liu, Jinglan
    Jethva, Reena
    Del Vecchio, Michael T.
    Hauptman, John E.
    Pascasio, Judy M.
    de Chadarevian, Jean-Pierre
    [J]. BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 2013, 97 (12) : 812 - 815
  • [26] DELETION AND DUPLICATION OF THE SAME REGION (4)(Q31-]QTER) IN 2 OFFSPRING OF A FATHER WITH A BALANCED TRANSLOCATION (4-8)(Q31-P23)
    LOGHINGROSSO, NS
    LAUANDOS, JE
    LYRANETTO, TC
    MULLER, R
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 640 - 640
  • [27] A stable acentric marker chromosome formed by interstitial deletion of 17q and subsequent inverted duplication of the deleted segment resulting in partial trisomy for 17q22 to 17q23 diagnosed in a dysmorphic newborn.
    Ravnan, JB
    Ouellette, K
    Fabre, A
    Crenshaw, DC
    Guillory, S
    Siewert, R
    McCoy, S
    Kothari, J
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A356 - A356
  • [28] Gain of chromosome 8q23-24 is a predictive marker for lymph node positivity in colorectal cancer
    Ghadimi, BM
    Grade, M
    Liersch, T
    Langer, C
    Siemer, A
    Füzesi, L
    Becker, H
    [J]. CLINICAL CANCER RESEARCH, 2003, 9 (05) : 1808 - 1814
  • [29] Chromosome 8 pentasomy with partial tandem duplication of 11q23 in a case of de novo acute myeloid leukemia
    Shin, So Youn
    Koo, Sun Hoe
    Kwon, Kye Chul
    Park, Jong Woo
    Song, Jeong Hoon
    Ko, Young Hyun
    Jo, Deog Yeon
    [J]. CANCER GENETICS AND CYTOGENETICS, 2009, 194 (01) : 44 - 47
  • [30] PARTIAL DUPLICATION 5Q SYNDROME - PHENOTYPIC SIMILARITY IN 2 SISTERS WITH IDENTICAL KARYOTYPE (PARTIAL DUPLICATION 5Q33-]5QTER AND PARTIAL DEFICIENCY 8P23-]PTER)
    BARTSCHSANDHOFF, M
    LIERSCH, R
    [J]. ANNALES DE GENETIQUE, 1977, 20 (04): : 281 - 284