Craniofacial and Neurological Phenotype in a Patient with De Novo 18q Microdeletion and 18p Microduplication

被引：1
|
作者：
Yapijakis, Christos [1 ,2 ,3 ]
Angelopoulou, Antonia [2 ]
Manolakos, Emmanuel [4 ]
Voumvourakis, Costas [3 ]
机构：
[1] Natl & Kapodistrian Univ Athens, Haghia Sophia Hosp, Sch Med, Dept Pediat 1, Athens, Greece
[2] Cephalogenet Diagnost Ctr, Dept Mol Genet, Athens, Greece
[3] Natl & Kapodistrian Univ Athens, Attikon Hosp, Sch Med, Dept Neurol 2, Athens, Greece
[4] ATG Genet Ctr, Athens, Greece
来源：
GENEDIS 2018: GENETICS AND NEURODEGENERATION | 2020年 / 1195卷
关键词：
D O I：
10.1007/978-3-030-32633-3_22
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：163 / 166
页数：4
相关论文
共 50 条
  • [21] Ring chromosome 18q and jumping translocation 18p in an adult male with hypergonadotrophic hypogonadism
    Zahed, L
    Oreibi, G
    Azar, C
    Salti, I
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 129A (01) : 25 - 28
  • [22] Recurrent Proximal 18p Monosomy and 18q Trisomy in a Family due to a Pericentric Inversion
    Zamani, Ayse Gul
    Acar, Aynur
    Durakbasi-Dursun, Gul
    Yildirim, M. Selman
    Ceylaner, Serdar
    Tuncez, Ebru
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (05) : 1239 - 1244
  • [23] Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18
    Prabhakara, K
    Wyandt, HE
    Huang, XL
    Prasad, KS
    Ramadevi, AR
    ANNALES DE GENETIQUE, 2004, 47 (03): : 297 - 303
  • [24] A case of de novo 18p deletion syndrome with panhypopituitarism
    Yang, Aram
    Kim, Jinsup
    Cho, Sung Yoon
    Lee, Ji-Eun
    Kim, Hee-Jin
    Jin, Dong-Kyu
    ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2019, 24 (01) : 60 - 63
  • [25] Suspected gonadal mosaicism for isochromosomes 18p and 18q unsubstantiated by FISH analysis of sperm.
    Williams, MS
    Josephson, KD
    Gursoy, N
    Jackson-Cook, C
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 151 - 151
  • [26] 18p de novo deletion studied by array CGH: A new approach for a phenotype map
    Bustamante-Aragones, Ana
    de Alba, Marta Rodriguez
    Ayuso, Carmen
    Ramos, Carmen
    Lorda-Sanchez, Isabel
    Diego-Alvarez, Dan
    CELLULAR ONCOLOGY, 2007, 29 (02) : 136 - 137
  • [27] De novo isochromosome 18p in a female dysmorphic child
    Smitha Ramegowda
    Harshavardhan M. Gawde
    Abbas Hyderi
    Mysore R. Savitha
    Zareen M. Patel
    Balasundaram Krishnamurthy
    Nallur B. Ramachandra
    Journal of Applied Genetics, 2006, 47 : 397 - 401
  • [28] Different Conformation of Two Supernumerary 18p Isochromosomes, One with a Concomitant Partial 18q Trisomy
    Noronha Dutra, A. R.
    Mancini, T. I.
    Satomi Takeno, S.
    Moyses Oliveira, M.
    Kim, C. A.
    Alvarez Perez, A. B.
    Domenici Kulikowski, L.
    Melaragno, M. I.
    CYTOGENETIC AND GENOME RESEARCH, 2012, 138 (01) : 1 - 4
  • [29] De novo deletion of chromosome 18q in a baby with harlequin ichthyosis
    Stewart, H
    Smith, PT
    Gaunt, L
    Moore, L
    Tarpey, P
    Andrew, S
    Dady, I
    Rifkin, R
    Clayton-Smith, J
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 102 (04): : 342 - 345
  • [30] De novo isochromosome 18p in a female dysmorphic child
    Ramegowda, Smitha
    Gawde, Harshavardhan M.
    Hyderi, Abbas
    Savitha, Mysore R.
    Patel, Zareen M.
    Krishnamurthy, Balasundaram
    Ramachandra, Nallur B.
    JOURNAL OF APPLIED GENETICS, 2006, 47 (04) : 397 - 401
12345