Further delineation of microcephaly region associated with 1q terminal deletion syndrome-a case report

被引：0
|
作者：
Samuelsson, Lena [1 ]
Gillberg, Carina [2 ]
Nedai, Hamid Hossein Nejad [3 ]
Rundberg, Julia
Behboudi, Afrouz [1 ,3 ]
Stefanova, Margarita
机构：
[1] Sahlgrens Univ Hosp, Clin Genet, Gothenburg, Sweden
[2] Sahlgrens Univ Hosp, Child Psychiat, Gothenburg, Sweden
[3] Sahlgrens Acad, Med & Clin Genet, Gothenburg, Sweden
来源：
CHROMOSOME RESEARCH | 2011年 / 19卷
关键词：
1q43-q44 deletion mental retardation;
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
1.P48
引用
收藏
页码：S62 / S63
页数：2
相关论文
共 50 条
  • [31] Further phenotypic delineation of subtelomeric (terminal) 4q deletion with emphasis on intracranial and reproductive anatomy
    Eric Scott Sills
    MJ Burns
    Laurinda D Parker
    Lisa P Carroll
    Lisa L Kephart
    CS Dyer
    Peter R Papenhausen
    Jessica G Davis
    Orphanet Journal of Rare Diseases, 2
  • [32] Further phenotypic delineation of subtelomeric (terminal) 4q deletion with emphasis on intracranial and reproductive anatomy
    Sills, Eric Scott
    Burns, M. J.
    Parker, Laurinda D.
    Carroll, Lisa P.
    Kephart, Lisa L.
    Dyer, C. S.
    Papenhausen, Peter R.
    Davis, Jessica G.
    ORPHANET JOURNAL OF RARE DISEASES, 2007, 2 (1)
  • [33] DUP(1Q)(Q42-]QTER) SYNDROME - CASE-REPORT AND REVIEW OF LITERATURE
    KENNERKNECHT, I
    BARBI, G
    RODENS, K
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 47 (08): : 1157 - 1160
  • [34] 18q Deletion Syndrome-Associated Schizophrenia: A Case Report
    Colijn, Mark A.
    Crockford, David N.
    NEUROPSYCHOBIOLOGY, 2024, 83 (3-4) : 179 - 182
  • [35] Pure terminal 14q deletion - case report
    Barisic, I.
    Petkovic, I.
    CHROMOSOME RESEARCH, 2007, 15 : 34 - 35
  • [36] Duplication dup(1)(q32q44) detected by comparative genomic hybridization (CGH):: Further delineation of trisomies 1q
    Bartsch, C
    Aslan, M
    Köhler, J
    Miny, P
    Horst, J
    Holzgreve, W
    Rehder, H
    Fritz, B
    FETAL DIAGNOSIS AND THERAPY, 2001, 16 (05) : 265 - 273
  • [37] Severe factor V deficiency associated with chromosome 1q deletion.
    Caudill, Jonathan S.
    Sood, Ruchira
    Zehnder, James L.
    Thorland, Erik C.
    Rodriguez, Vilmarie
    Pruthi, Rajiv K.
    Steensma, David P.
    BLOOD, 2006, 108 (11) : 310A - 310A
  • [38] Terminal 10q26.12 deletion is associated with neonatal asymmetric crying facies syndrome: a case report and literature review
    Li, Qinghong
    Sun, Chunmei
    Guo, Jinzhen
    Zhai, Wen
    Zhang, Liping
    MOLECULAR CYTOGENETICS, 2021, 14 (01)
  • [39] Terminal 10q26.12 deletion is associated with neonatal asymmetric crying facies syndrome: a case report and literature review
    Qinghong Li
    Chunmei Sun
    Jinzhen Guo
    Wen Zhai
    Liping Zhang
    Molecular Cytogenetics, 14
  • [40] Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: Further delineation of the trisomy 1q syndrome
    Duba, HC
    Erdel, M
    Loffler, J
    Bereuther, L
    Fischer, H
    Utermann, B
    Utermann, G
    JOURNAL OF MEDICAL GENETICS, 1997, 34 (04) : 309 - 313
12345