Molecular cytogenetic characterization of a derivative chromosome 8 with an inverted duplication of 8p21.3?p23.3 and a rearranged duplication of 8q24.13?qter

2001 ◽  
Vol 102 (3) ◽  
pp. 266-271 ◽  
Author(s):  
Yao-Shan Fan ◽  
Victoria M. Siu
Keyword(s):  
Chromosome 8 ◽  
Derivative Chromosome ◽  
Molecular Cytogenetic ◽  
Inverted Duplication ◽  
Cytogenetic Characterization

Clinical and molecular cytogenetic characterization of two cases of inverted duplication deletion 8p

2020 ◽  
pp. 41-42
Author(s):  
Д.А. Юрченко ◽  
М.Е. Миньженкова ◽  
Е.Л. Дадали ◽  
Н.В. Шилова
Keyword(s):  
Mental Retardation ◽  
Congenital Heart ◽  
Heart Defects ◽  
Clinical Manifestations ◽  
Formation Mechanisms ◽  
Agenesis Of Corpus Callosum ◽  
Molecular Cytogenetic ◽  
Inverted Duplication ◽  
Cytogenetic Characterization

Синдром инвертированной дупликации короткого плеча хромосомы 8 со смежной терминальной делециенй (inv dup del(8p), ORPHA 96092) - редкая хромосомная аномалия (ХА) с частотой 1/10000-1/30000 живорожденных. В статье представлены клинические и молекулярно-цитогенетические характеристики двух неродственных пациентов с синдромом inv dup del(8p) и уточнены механизмы формирования хромосомного дисбаланса. Inverted duplication deletion 8p syndrome (inv dup del(8p), ORPHA 96092) is a rare chromosomal abnormality with a frequency of 1:10,000 - 30,000 newborns. Clinical manifestations of this syndrome include mental retardation, facial anomalies, hypoplasia/agenesis of corpus callosum, scoliosis and/or kyphosis, hypotonia, congenital heart defects. The article presents the clinical and molecular cytogenetic characteristics of two patients with inv dup del (8p) syndrome and clarifies the formation mechanisms.

Molecular cytogenetic characterization of a prenatally detected supernumerary minute marker chromosome 8

1999 ◽  
Vol 19 (12) ◽  
pp. 1169-1174 ◽  
Author(s):  
Heike Starke ◽  
Isolde Schreyer ◽  
Christine Kähler ◽  
Wolfgang Fiedler ◽  
Volkmar Beensen ◽  
...  
Keyword(s):  
Marker Chromosome ◽  
Chromosome 8 ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

scholarly journals Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea

2012 ◽  
Vol 2012 ◽  
pp. 1-5
Author(s):  
Usha R. Dutta ◽  
Vijaya Kumar Pidugu ◽  
Ashwin Dalal
Keyword(s):  
Short Stature ◽  
Cytogenetic Analysis ◽  
Clinical Phenotype ◽  
Chromosome Rearrangement ◽  
Dicentric Chromosome ◽  
Derivative Chromosome ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

We report a 16-year-old girl who presented with short stature and amenorrhea. Initially the cytogenetic analysis showed the presence of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19. Subsequent molecular cytogenetic analysis by fluorescencein situhybridization (FISH) using whole chromosome paints, centromeric probes, as well as gene specific probes confirmed the dicentric nature of the derivative chromosome and indicated that the rearrangement involved the short arms of both of these chromosomes. Furthermore, we also determined that the chromosome 19p13.3 breakpoint occurred within the terminal 1 Mb region. This is the first report of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19 with the karyotype determined as 45,XX,dic(14;19)(p11.2;p13.3)[35]/46,XX[15], and we suggest that the chromosome rearrangement could be the cause of clinical phenotype.

Molecular cytogenetic characterization of two small chromosome 8 derived supernumerary mosaic markers

2004 ◽  
Vol 128A (1) ◽  
pp. 33-38 ◽  
Author(s):  
A. Herry ◽  
F. Morel ◽  
M.-J. Le Bris ◽  
V. Bellec ◽  
H. Lallaoui ◽  
...  
Keyword(s):  
Small Chromosome ◽  
Chromosome 8 ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization
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