Partial Trisomy 2p and Partial Monosomy 2q Arising from a Paternal Intrachromosomal 2q-into-2p Between-Arm Insertion and Paracentric Inversion: Molecular Cytogenetic Characterization of a Four-Break Rearrangement

2013 ◽  
Vol 140 (1) ◽  
pp. 12-20
Author(s):  
E. Manolakos ◽  
A. Vetro ◽  
E. Papadopoulou ◽  
K. Kefalas ◽  
M. Lagou ◽  
...  
Keyword(s):  
Partial Trisomy ◽  
Paracentric Inversion ◽  
Partial Monosomy ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

Molecular cytogenetic characterization of a new case of partial trisomy 13 (13q11q13.2)

2010 ◽  
Vol 152A (2) ◽  
pp. 490-494
Author(s):  
Veronica Bertini ◽  
Roberta Battini ◽  
Giovanni Cioni ◽  
Paolo Simi ◽  
Angelo Valetto
Keyword(s):  
Partial Trisomy ◽  
Trisomy 13 ◽  
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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