Characterization of a Complex Derivative Chromosome 18

2016 ◽  
Vol 209 (5) ◽  
pp. 247-248
Author(s):  
Andrea Penton ◽  
Blair K. Stevens ◽  
Peter Papenhausen
Keyword(s):  
Derivative Chromosome ◽  
Chromosome 18 ◽  
Complex Derivative

Cytogenetic, Molecular, and Phenotypic Characterization of a Patient with de novo Derivative Chromosome 18 and Review of the Literature

2019 ◽  
Vol 159 (2) ◽  
pp. 74-80
Author(s):  
Ezgi Gökpınar İli ◽  
Şule Altıner ◽  
Halil G. Karabulut
Keyword(s):  
Motor Skills ◽  
De Novo ◽  
Karyotype Analysis ◽  
Phenotypic Characterization ◽  
Chromosomal Microarray ◽  
Derivative Chromosome ◽  
Chromosome 18 ◽  
Interstitial Duplication ◽  
Additional Segment

We present a patient with a de novo derivative chromosome 18 which includes a terminal deletion of 18p and a terminal duplication of 18q accompanied by a cryptic duplication of 18p. The girl had mild dysmorphic features such as micro-retrognathia, upslanted palpebral fissures, bilateral epicanthus, high palate, low-set ears, short neck, and full cheeks. She also had an H-type tracheoesophageal fistula which required surgery. Her cognitive and motor skills were delayed. Karyotype analysis showed an additional segment on the short arm of chromosome 18. Chromosomal microarray revealed a 7.3-Mb terminal loss from 18p11.32 to 18p11.23, a 22.2-Mb terminal gain from 18q21.31 to 18q23, and a 3.9-Mb interstitial gain from 18p11.22 to 18p11.21. We hypothesize that the mother has gonadal mosaicism for normal chromosome 18, der(18)dup(p11.22p11.21), and der(18)dup(p11. 22p11.21)inv(18)(p11.22q21.31), or both the terminal del/dup and the interstitial duplication occurred simultaneously.

FINE MAPPING AND CHARACTERIZATION OF CANDIDATE LUNG TUMOR RESISTANCE GENES FOR THEPar2LOCUS ON MOUSE CHROMOSOME 18

2000 ◽  
Vol 26 (8) ◽  
pp. 627-639 ◽  
Author(s):  
Zhongqiu Zhang ◽  
Lin Lin ◽  
Gongjie Liu ◽  
Min Wang ◽  
Janell Hill ◽  
...  
Keyword(s):  
Mouse Chromosome ◽  
Resistance Genes ◽  
Fine Mapping ◽  
Lung Tumor ◽  
Tumor Resistance ◽  
Chromosome 18

Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18

2013 ◽  
Vol 163 (4) ◽  
pp. 1174-1178.e3 ◽  
Author(s):  
Ana Spreiz ◽  
Roberta S. Guilherme ◽  
Claudio Castellan ◽  
Andrew Green ◽  
Olaf Rittinger ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Single Nucleotide Polymorphism Array ◽  
Ring Chromosome ◽  
Nucleotide Polymorphism ◽  
Chromosome 18 ◽  
Single Nucleotide ◽  
Ring Chromosome 18

Characterization of CTG/CAG repeats on chromosome 18: a study of bipolar disorder

2005 ◽  
Vol 15 (2) ◽  
pp. 91-99 ◽  
Author(s):  
Theresa Swift-Scanlan ◽  
Jennifer M. Coughlin ◽  
Tsuo-Hung Lan ◽  
James B. Potash ◽  
Roxann G. Ingersoll ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Cag Repeats ◽  
Chromosome 18

scholarly journals Identification and characterization of a hypervariable region [D18S27] on chromosome 18

1989 ◽  
Vol 17 (20) ◽  
pp. 8404-8404 ◽  
Author(s):  
Nancy Y. Ip ◽  
I. van de Stadt ◽  
Zvi G. Loewy ◽  
Susan Leary ◽  
Karl-Heinz Grzeschik ◽  
...  
Keyword(s):  
Hypervariable Region ◽  
Chromosome 18 ◽  
Identification And Characterization

Partial characterization of porcine obesity gene (OBS) and its localization to chromosome 18 by somatic cell hybrids

2009 ◽  
Vol 27 (4) ◽  
pp. 275-278 ◽  
Author(s):  
S. Neuenschwander ◽  
G. Rettenberger ◽  
E. Meijerink ◽  
H. Jörg ◽  
G. Stranzinger
Keyword(s):  
Somatic Cell ◽  
Partial Characterization ◽  
Somatic Cell Hybrids ◽  
Chromosome 18 ◽  
Obesity Gene ◽  
Cell Hybrids

Identification and Molecular Characterization of a de novo Supernumerary Ring Chromosome 18 in a Patient with Klippel-Trenaunay Syndrome

2004 ◽  
Vol 68 (4) ◽  
pp. 353-361 ◽  
Author(s):  
A. Anil Timur ◽  
Azita Sadgephour ◽  
Michael Graf ◽  
Stuart Schwartz ◽  
Eric D. Libby ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Ring Chromosome ◽  
Chromosome 18 ◽  
Klippel Trenaunay Syndrome ◽  
Ring Chromosome 18
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