Molecular cytogenetic characterization of a constitutional, highly complex intrachromosomal rearrangement of chromosome 1, with 14 breakpoints and a 0.5 Mb submicroscopic deletion

2008 ◽  
Vol 146A (24) ◽  
pp. 3217-3222 ◽  
Author(s):  
A. Lindstrand ◽  
H. Malmgren ◽  
S. Sahlén ◽  
H. Xin ◽  
J. Schoumans ◽  
...  
Keyword(s):  
Chromosome 1 ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization ◽  
Intrachromosomal Rearrangement ◽  
Submicroscopic Deletion

Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1

2017 ◽  
Vol 153 (2) ◽  
pp. 73-80 ◽  
Author(s):  
Rosamaria Silipigni ◽  
Edoardo Monfrini ◽  
Marco Baccarin ◽  
Sara Giangiobbe ◽  
Faustina Lalatta ◽  
...  
Keyword(s):  
Snp Array ◽  
Chromosome 1 ◽  
Reproductive Risk ◽  
Molecular Cytogenetic ◽  
The Family ◽  
Cytogenetic Characterization ◽  
Snp Array Analysis ◽  
Meiotic Consequence ◽  
Inverted Insertion

Rearrangements of the region 1q42.13q43 are rare, with only 7 cases reported to date. The imbalances described are usually the result of inherited translocations with other chromosomes. Moreover, few cases of both inter- and intrachromosomal deletions/duplications detected cytogenetically have been described. We report the molecular cytogenetic characterization of an inverted insertion involving the region 1q42.13q43 and segregating in 2 generations of a family. The deletion and the duplication of the same segment were detected in 2 affected family members. SNP array analysis showed the familial origin of the deletion/duplication due to the occurrence of a crossing-over during meiosis. Our report underlines the importance of determining the correct origin of chromosomal aberrations using different molecular cytogenetic tests in order to provide a good estimation of the reproductive risk for the members of the family.

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 characterization of 1p deletions and 1;17 translocation breakpoints in neuroblastoma

1994 ◽  
Vol 77 (2) ◽  
pp. 157
Author(s):  
Nadine Van Roy ◽  
Geneviève Laureys ◽  
Ngan Ching Cheng ◽  
Ghislain Opdenakker ◽  
Rogier Versteeg ◽  
...  
Keyword(s):  
Molecular Cytogenetic ◽  
Translocation Breakpoints ◽  
Cytogenetic Characterization

Molecular cytogenetic characterization of del(7q) in two uterine leiomyoma-derived cell lines

1997 ◽  
Vol 18 (3) ◽  
pp. 155-161 ◽  
Author(s):  
Roberta Vanni ◽  
Susanna Marras ◽  
Eric F. P. M. Schoenmakers ◽  
Paola Dal Cin ◽  
Bernd Kazmierczak ◽  
...  
Keyword(s):  
Cell Lines ◽  
Uterine Leiomyoma ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization
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