Trisomy 18p Caused by a Supernumerary Marker With a Chromosome 13/21 Centromere: A Possible Recurrent Chromosome Aberration

被引：7

作者：

Plaja, Alberto ^{[1
,2
]}

Lloveras, Elisabet ^{[1
]}

Martinez-Bouzas, Cristina ^{[3
]}

Barrena, Beatriz ^{[4
]}

Del Campo, Miguel ^{[2
]}

Fernandez, Asuncion ^{[2
]}

Herrero, Marta ^{[1
]}

Barranco, Laura ^{[1
]}

Palau, Nuria ^{[1
]}

Asuncion Lopez-Ariztegui, M. ^{[3
]}

Catala, Vicenc ^{[5
]}

Tejada, Maria-Isabel ^{[3
]}

机构：

[1] Citogenetica, Gen Lab, Lab Anal, Barcelona, Spain

[2] Univ Autonoma Barcelona, Hosp Univ Vall dHebron, Inst Recerca VHIR, E-08193 Barcelona, Spain

[3] Hosp Univ Cruces, Lab Genet Mol, Serv Genet, BioCruces Hlth Res Inst, Baracaldo 48903, Bizkaia, Spain

[4] Hosp Basurto, Unidad Genet, Bilbao, Spain

[5] Prenatal Genet, Barcelona, Spain

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2013年 / 161卷 / 09期

关键词：

cytogenetics; small marker chromosome; sSMC; recurring chromosome abnormality; intellectual disability; 18p trisomy; GENOTYPE-PHENOTYPE CORRELATION; MENTAL-RETARDATION; SHORT ARM; DUPLICATION; FREQUENCY; ORIGIN; PURE; SSMC; AGE;

D O I：

10.1002/ajmg.a.36102

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present a clinical and molecular cytogenetic characterization of two new patients with a complex supernumerary marker consisting of the entire short arm of chromosome 18 with a chromosome 13/21 centromere. One patient is a girl with a nonsyndromic intellectual disability and the second is a prenatally diagnosed fetus. To our knowledge, these are the fourth and fifth such cases to be described in the literature, suggesting the existence of a possible recurring constitutional structural chromosome abnormality. (c) 2013 Wiley Periodicals, Inc.

引用

页码：2363 / 2368

页数：6

共 11 条

[1] TRISOMY 21 WITH A SMALL SUPERNUMERARY MARKER CHROMOSOME DERIVED FROM CHROMOSOMES 13/21 AND 18
Niksic, S. B.
Deretic, V., I
Pilic, G. R.
Ewers, E.
Merkas, M.
Ziegler, M.
Liehr, T.
BALKAN JOURNAL OF MEDICAL GENETICS, 2010, 13 (01) : 55 - 58
[2] Molecular characterization of a complex small supernumerary marker chromosome derived from chromosome 18p: an addition to the literature
Eleonora Marchina
Michela Forti
Mariella Tonelli
Stefania Maccarini
Francesca Malvestiti
Chiara Piantoni
Elena Filippini
Elisa Fazzi
Giuseppe Borsani
Molecular Cytogenetics, 14
[3] Molecular characterization of a complex small supernumerary marker chromosome derived from chromosome 18p: an addition to the literature
Marchina, Eleonora
Forti, Michela
Tonelli, Mariella
Maccarini, Stefania
Malvestiti, Francesca
Piantoni, Chiara
Filippini, Elena
Fazzi, Elisa
Borsani, Giuseppe
MOLECULAR CYTOGENETICS, 2021, 14 (01)
[4] Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation
Mabboux, P.
Brisset, S.
Aboura, A.
Pineau, D.
Koubi, V.
Joannidis, S.
Labrune, P.
Tachdjian, G.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (07) : 727 - 733
[5] A Case of Partial Trisomy 2p23-pter Syndrome with Trisomy 18p Due to a de novo Supernumerary Marker Chromosome
Lee, Jong Ho
Cho, Hee Soon
Lee, Eun Sil
Jung, Bo-Chan
KOREAN JOURNAL OF LABORATORY MEDICINE, 2010, 30 (03): : 312 - 317
[6] Mosaic rearrangement of chromosome 18: Characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin
Oner, G
Jauch, A
Eggermann, T
Hardwick, R
Kirsch, S
Schiebel, K
Rappold, G
Robson, L
Smith, A
AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 92 (02): : 101 - 106
[7] Severe psychomotor retardation in a boy with a supernumerary derivative chromosome resulting in partial trisomy 21 and partial trisomy 7p
Ahlbom, BE
Wahlström, B
Saalman, R
Wadelius, C
Annerén, G
ANNALES DE GENETIQUE, 2003, 46 (01): : 29 - 35
[8] Mosaic Partial Trisomy 19p12-q13.11 Due to a Small Supernumerary Marker Chromosome: A Locus Associated With Asperger Syndrome?
Faucz, Fabio Rueda
Souza, Josiane
Bonalumi Filho, Aguinaldo
Sotomaior, Vanessa Santos
Frantz, Egon
Antoniuk, Sergio
Rosenfeld, Jill A.
Raskin, Salmo
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (09) : 2308 - 2310
[9] A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype
Camerota, Letizia
Pitzianti, Mariabernarda
Postorivo, Diana
Nardone, Anna M.
Ligas, Claudio
Moretti, Costanzo
Pasini, Augusto
Brancati, Francesco
CYTOGENETIC AND GENOME RESEARCH, 2017, 153 (01) : 22 - 28
[10] Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: Delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications
Yatsenko, SA
Treadwell-Deering, D
Krull, K
Lewis, RA
Glaze, D
Stankiewicz, P
Lupski, JR
Potocki, L
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 138A (02) : 175 - 180

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