A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features

被引：0
|
作者：
Poirsier-Violle, Celine [1 ]
Abourra, Azzedine [1 ]
Baumann, Clarisse [1 ]
Perrin, Laurence [1 ]
Capri, Yline [1 ]
Mignot, Cyril [2 ]
Passemard, Sandrine [1 ,3 ]
Drunat, Severine [1 ]
Verloes, Alain [1 ,3 ]
机构：
[1] Univ Paris Diderot Sorbonne Paris Cite, Dept Genet, Hop Robert Debre, Paris, France
[2] Hop La Pitie Salpetriere, Unite Genet Clin, Paris, France
[3] Univ Paris Diderot Sorbonne Paris Cite, INSERM, U676, Hop Robert Debre, Paris, France
来源：
EUROPEAN JOURNAL OF MEDICAL GENETICS | 2013年 / 56卷 / 04期
关键词：
CGH-array; Duplication; 17q21.2; Intellectual disability; Microcephaly; PROTEINS; ABSENCE; GENE;
D O I：
10.1016/j.ejmg.2012.12.005
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report a boy with severe developmental delay, microcephaly and characteristic facial dysmorphism consisting in round face, hypertelorism, upslanted palpebral fissures, small nose, large mouth, micrognathia, sparse hair and eyelashes. Array-CGH revealed a de novo duplication of 103 kb within 17q21.2 not reported to date. The duplication includes 8 genes: DHX58, KAT2A, HSPB9, RAB5C, KCNH4, HCRT, GHDC and STAT5B. Three genes (KATA2, KCNH4, and STAT5B) may contribute to intellectual deficiency. Further observations will be necessary to confirm the specificity of the facial Gestalt. (C) 2012 Elsevier Masson SAS. All rights reserved.
引用
收藏
页码：226 / 228
页数：3
相关论文
共 50 条
  • [31] Mosaic de novo interstitial duplication of chromosome 17q
    van Haelst, M
    Bhat, M
    Bint, S
    JOURNAL OF MEDICAL GENETICS, 2005, 42 : S53 - S53
  • [32] De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features
    Makrythanasis, P.
    Moix, I.
    Gimelli, S.
    Fluss, J.
    Aliferis, K.
    Antonarakis, S. E.
    Morris, M. A.
    Bena, F.
    Bottani, A.
    CLINICAL GENETICS, 2010, 78 (02) : 175 - 180
  • [33] A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features
    Preiksaitiene, E.
    Maennik, K.
    Dirse, V.
    Utkus, A.
    Ciuladaite, Z.
    Kasnauskiene, J.
    Kurg, A.
    Kucinskas, V.
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2012, 55 (11) : 656 - 659
  • [34] A de novo deletion of chromosome 15(q15.2q21.2) in a dysmorphic, mentally retarded child with congenital scalp defect
    Koivisto, PA
    Koivisto, H
    Haapala, K
    Simola, KOJ
    CLINICAL DYSMORPHOLOGY, 1999, 8 (02) : 139 - 141
  • [35] A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features
    Floor, Karijn
    Baroy, Tuva
    Misceo, Doriana
    Kanavin, Oivind J.
    Fannemel, Madeleine
    Frengen, Eirik
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2012, 55 (12) : 695 - 699
  • [36] De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features
    Yamamoto, Toshiyuki
    Matsuo, Mari
    Shimada, Shino
    Sangu, Noriko
    Shimojima, Keiko
    Aso, Seijiro
    Saito, Kayoko
    MOLECULAR CYTOGENETICS, 2013, 6
  • [37] De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features
    Toshiyuki Yamamoto
    Mari Matsuo
    Shino Shimada
    Noriko Sangu
    Keiko Shimojima
    Seijiro Aso
    Kayoko Saito
    Molecular Cytogenetics, 6
  • [38] De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features
    Tanaka, Akemi J.
    Cho, Megan T.
    Retterer, Kyle
    Jones, Julie R.
    Nowak, Catherine
    Douglas, Jessica
    Jiang, Yong-Hui
    McConkie-Rosell, Allyn
    Schaefer, G. Bradley
    Kaylor, Julie
    Rahman, Omar A.
    Telegrafi, Aida
    Friedman, Bethany
    Douglas, Ganka
    Monaghan, Kristin G.
    Chung, Wendy K.
    COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2016, 2 (01):
  • [39] Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features
    Fukuda, Tokiko
    Hiraide, Takuya
    Yamoto, Kaori
    Nakashima, Mitsuko
    Kawai, Tomoko
    Yanagi, Kumiko
    Ogata, Tsutomu
    Saitsu, Hirotomo
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (04)
  • [40] De novo microdeletions at 6q14.1 encompassing the PHIP gene in two girls with developmental delay, intellectual disability, behavioral problems obesity, and dysmorphic features
    Boughalem, A.
    Trost, D.
    Bazin, A.
    Allioux, C.
    Lantres, A.
    Kleinfinger, P.
    Zimmer, S.
    Lohmann, L.
    Luscan, A.
    Valduga, M.
    Costa, J.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 587 - 587
12345