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
  • [11] Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome
    Stefan J Vermeulen
    Frank Speleman
    Leen Vanransbeeck
    Jasmien Verspeet
    Björn Menten
    Marie-Rose Verschraegen-Spae
    Philippe De Wilde
    Ludwine Messiaen
    Ron C Michaelis
    Jules G Leroy
    European Journal of Human Genetics, 2005, 13 : 52 - 58
  • [12] Prenatal detection of trisomy 18 caused by isochromosome 18p and 18q formation
    van den Berg, C
    Pijpers, L
    Halley, DJJ
    Van Opstal, D
    Los, FJ
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1999, 86 (02): : 151 - 155
  • [13] TRISOMY (18Q) AND TETRASOMY (18P) RESULTING FROM ISOCHROMOSOME FORMATION
    KLECZKOWSKA, A
    FRYNS, JP
    BUTTIENS, M
    DEBISSCHOP, F
    EMMERY, L
    VANDENBERGHE, H
    CLINICAL GENETICS, 1986, 30 (06) : 503 - 508
  • [14] Chromosome 18q Deletion & Chromosome 18p Duplication: A Neuropsychological Case Study
    Newkirk, Bailey
    ARCHIVES OF CLINICAL NEUROPSYCHOLOGY, 2022, 37 (06) : 1308 - 1308
  • [15] A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype
    Banker, Deepa
    Mungala, Bhavdeep
    Parekh, Zankhana
    Ganatra, Shachi
    Maheshwari, Vimal
    Raj, Yashica
    Patel, Utsav
    Patel, Digant
    Chamar, Kishan
    Solanki, Vasu
    CASE REPORTS IN PEDIATRICS, 2023, 2023
  • [16] MILD PHENOTYPE IN A PRENATALLY DIAGNOSED CASE WITH DE-NOVO DELETION FOR TERMINAL 18Q
    PETERSBROWN, T
    FRYMEHLTRETTER, L
    DECKERPHILLIPS, M
    KAHLER, SG
    QUMSIYEH, MB
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 2013 - 2013
  • [17] DE NOVO 18q DELETION WITH MITRAL VALVE INSUFFICIENCY
    Gunes, S.
    Okten, G.
    Kara, N.
    Saglam, Y.
    Tasdemir, H. A.
    Kayacik, O. Eroglu
    Tural, S.
    GENETIC COUNSELING, 2008, 19 (03): : 261 - 265
  • [18] MONOSOMY 18P WITH MOSAICISM FOR ISOCHROMOSOME 18Q IN A 47-YEAR-OLD WOMAN
    JOURGENSEN, D
    KRIEGER, R
    GREGORY, T
    SCHONBERG, S
    PACKMAN, S
    CLINICAL RESEARCH, 1986, 34 (01): : A136 - A136
  • [19] Partial deletion of 18p and partial duplication of 18q caused by a paternal pericentric inversion
    Israels, T
    Hoovers, J
    Turpijn, HM
    Wijburg, FA
    Hennekam, RCM
    CLINICAL GENETICS, 1996, 50 (06) : 520 - 524
  • [20] CLINICAL FOLLOW-UP OF AN INFANT WITH MOSAICISM FOR TRISOMY 18Q AND TETRASOMY 18P
    HABECKERGREEN, J
    KANAAN, C
    BAYERZWIRELLO, L
    OGRADY, JP
    NAEEM, R
    COHN, G
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1775 - 1775
12345