Molecular–cytogenetic characterization of the origin and the presence of pericentromeric euchromatin on minute supernumerary marker chromosomes (SMCs)

2004 ◽  
Vol 12 (3) ◽  
pp. 239-244 ◽  
Author(s):  
T. Liehr ◽  
G. Hickmann ◽  
P. Kozlowski ◽  
U. Claussen ◽  
H. Starke
Keyword(s):  
Marker Chromosomes ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization ◽  
Supernumerary Marker Chromosomes

Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19

2009 ◽  
Vol 149A (2) ◽  
pp. 262-265 ◽  
Author(s):  
Thomas R. Dennis ◽  
Gina N. Raptoulis ◽  
Heather J. Stalker ◽  
Debra Boles ◽  
Jeanne M. Meck ◽  
...  
Keyword(s):  
Chromosome 19 ◽  
Marker Chromosomes ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization ◽  
Small Supernumerary Marker Chromosomes ◽  
Supernumerary Marker Chromosomes

Molecular Cytogenetic Characterization of Supernumerary Marker Chromosomes by Chromosomal Microarray

2011 ◽  
Vol 8 (2) ◽  
pp. 119-124
Author(s):  
Mi Hyun Bae ◽  
Han-Wook Yoo ◽  
Jin-Ok Lee ◽  
Maria Hong ◽  
Eul-Ju Seo
Keyword(s):  
Chromosomal Microarray ◽  
Marker Chromosomes ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization ◽  
Supernumerary Marker Chromosomes

Molecular cytogenetic characterization of marker chromosomes found at prenatal diagnosis

1993 ◽  
Vol 13 (5) ◽  
pp. 385-394 ◽  
Author(s):  
M. R. Verschraegen-Spae ◽  
N. Van Roy ◽  
A. De Perdigo ◽  
A. De Paepe ◽  
F. Speleman
Keyword(s):  
Prenatal Diagnosis ◽  
Marker Chromosomes ◽  
Molecular Cytogenetic ◽  
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.

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