scholarly journals Trisomy and tetrasomy 15q11-q13 diagnosed by molecular cytogenetic analysis in two patients with mental retardation

2015 ◽  
Vol 01 (01) ◽  
pp. 063-068
Author(s):  
Abir Gmidène ◽  
Najla Soyah ◽  
Hannachi Hanene ◽  
Soumaya Mougou ◽  
Hatem Elghezal ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cytogenetic Analysis ◽  
Molecular Cytogenetic

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 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

Perinatal findings and molecular cytogenetic analysis ofde novo partial trisomy 16q (16q22.1?qter) and partial monosomy 20q (20q13.3?qter)

2005 ◽  
Vol 25 (2) ◽  
pp. 112-118 ◽  
Author(s):  
Chih-Ping Chen ◽  
Shuan-Pei Lin ◽  
Chyi-Chyang Lin ◽  
Yueh-Chun Li ◽  
Schu-Rern Chern ◽  
...  
Keyword(s):  
Cytogenetic Analysis ◽  
Partial Trisomy ◽  
Partial Monosomy ◽  
Molecular Cytogenetic

A comprehensive molecular cytogenetic analysis of the genome architecture in modern sugarcane cultivars

2022 ◽  
Author(s):  
Kai Wang ◽  
Hon Cheng ◽  
Jinlei Han ◽  
Ayman Esh ◽  
Jiayong Liu ◽  
...  
Keyword(s):  
Cytogenetic Analysis ◽  
Genome Architecture ◽  
Molecular Cytogenetic

Clinicopathologic and Molecular Cytogenetic Analysis of 8 Cases With Uterine Cervical Ewing Sarcoma

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Yufan Cheng ◽  
Qianming Bai ◽  
Bin Wu ◽  
Bin Chang ◽  
Rui Bi ◽  
...  
Keyword(s):  
Ewing Sarcoma ◽  
Cytogenetic Analysis ◽  
Molecular Cytogenetic

Molecular cytogenetic analysis of a Xp21.3-pter deletion in a family with normal and short stature

2002 ◽  
Vol 61 (2) ◽  
pp. 163-165 ◽  
Author(s):  
G Tachdjian ◽  
F Perreaux ◽  
A Aboura ◽  
P Chevalier ◽  
M-F Portnoi ◽  
...  
Keyword(s):  
Short Stature ◽  
Cytogenetic Analysis ◽  
Molecular Cytogenetic

scholarly journals Comprehensive molecular cytogenetic analysis of the human blastocyst stage

2008 ◽  
Vol 23 (11) ◽  
pp. 2596-2608 ◽  
Author(s):  
E. Fragouli ◽  
M. Lenzi ◽  
R. Ross ◽  
M. Katz-Jaffe ◽  
W.B. Schoolcraft ◽  
...  
Keyword(s):  
Cytogenetic Analysis ◽  
Blastocyst Stage ◽  
Molecular Cytogenetic ◽  
Human Blastocyst
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