Prenatal and postnatal characterization of Y chromosome structural anomalies by molecular cytogenetic analysis

2002 ◽  
Vol 22 (9) ◽  
pp. 802-805 ◽  
Author(s):  
C. Hernando ◽  
M. Carrera ◽  
I. Ribas ◽  
N. Parear ◽  
R. Baraibar ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Cytogenetic Analysis ◽  
Molecular Cytogenetic ◽  
Structural Anomalies

scholarly journals Prenatal diagnosis and molecular cytogenetic characterization of a small marker chromosome derived from Y chromosome

2011 ◽  
Vol 50 (2) ◽  
pp. 253-257 ◽  
Author(s):  
Chih-Ping Chen ◽  
Ming Chen ◽  
Gwo-Chin Ma ◽  
Shun-Ping Chang ◽  
Yi-Yung Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Y Chromosome ◽  
Marker Chromosome ◽  
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.

Identification and molecular cytogenetic characterization of a novel complex Y chromosome rearrangement in a boy with disorder of sexual development

Gene ◽  
2013 ◽  
Vol 519 (2) ◽  
pp. 374-380 ◽  
Author(s):  
Usha R. Dutta ◽  
Vijaya Kumar Pidugu ◽  
Ch. Venkateshwar Goud ◽  
Christiane Hoefers ◽  
Monika Hagemann ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Sexual Development ◽  
Chromosome Rearrangement ◽  
Molecular Cytogenetic ◽  
Disorder Of Sexual Development ◽  
Cytogenetic Characterization ◽  
Novel Complex

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.

scholarly journals Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1

2018 ◽  
Vol Volume 11 ◽  
pp. 77-80 ◽  
Author(s):  
Isabel Ochando ◽  
Melanie Cristine Alonzo Martínez ◽  
Ana María Serrano ◽  
Antonio Urbano ◽  
Eduardo Cazorla ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
De Novo ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

Molecular cytogenetic analysis of feline leukemia virus insertions in cat lymphoid tumor cells

2010 ◽  
Vol 163 (2) ◽  
pp. 344-352 ◽  
Author(s):  
Yasuhito Fujino ◽  
Hitoshi Satoh ◽  
Koichi Ohno ◽  
Hajime Tsujimoto
Keyword(s):  
Tumor Cells ◽  
Cytogenetic Analysis ◽  
Leukemia Virus ◽  
Feline Leukemia Virus ◽  
Lymphoid Tumor ◽  
Molecular Cytogenetic
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