scholarly journals Application of molecular cytogenetic techniques to characterize the aberrant Y chromosome arising de novo in a male fetus with mosaic 45,X and solve the discrepancy between karyotyping, chromosome microarray, and multiplex ligation dependent probe amplification

2018 ◽  
Vol 117 (11) ◽  
pp. 1027-1031 ◽  
Author(s):  
Shin-Yu Lin ◽  
Chien-Nan Lee ◽  
Ai-Ying Peng ◽  
Ti-Jia Yuan ◽  
Dong-Jay Lee ◽  
...  
Keyword(s):  
Y Chromosome ◽  
De Novo ◽  
Male Fetus ◽  
Molecular Cytogenetic ◽  
Molecular Cytogenetic Techniques ◽  
Chromosome Microarray ◽  
Dependent Probe

Quando il disturbo del neurosviluppo ha un substrato genetico: un caso di sindrome di Kleefstra

2021 ◽  
Vol 24 (4) ◽  
pp. 114-117
Author(s):  
Lorena Sorasio ◽  
Luisa Franceschi ◽  
Lisa Pavinato ◽  
Antonella Peduto
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Point Mutation ◽  
Neurodevelopmental Disorders ◽  
De Novo ◽  
Neurodevelopmental Disorder ◽  
Diagnostic Classification ◽  
Molecular Cytogenetic ◽  
Sequencing Technologies ◽  
Molecular Cytogenetic Techniques

Neurodevelopmental disorders (ND) have an important prevalence in children; intellectual disability in particular occurs in a heterogeneous group of genetic conditions. The evolution of molecular cytogenetic techniques and the recent advances in exome sequencing technologies have enormously implemented the possibilities of diagnostic classification in children with cognitive disabilities due to genetics. The paper presents the case of a patient with a neurodevelopmental disorder who was diagnosed with Kleefstra (KS) syndrome, caused by a point mutation de novo of EHMT1 gene.

Identification of a non-fluorescent isodicentric Y chromosome by molecular cytogenetic techniques

2008 ◽  
Vol 46 (5) ◽  
pp. 364-367 ◽  
Author(s):  
Michael J. Macera ◽  
Jack Sherman ◽  
Harshad O. Shah ◽  
Denise L. Blumberg ◽  
Linda S. Buttice ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Molecular Cytogenetic ◽  
Molecular Cytogenetic Techniques

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

scholarly journals Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21

2011 ◽  
Vol 28 (7) ◽  
pp. 621-626
Author(s):  
Monica Martinez-Garcia ◽  
Eva Ainse ◽  
Maria García-Hoyos ◽  
Ana Bustamante ◽  
Rocio Cardero ◽  
...  
Keyword(s):  
Molecular Cytogenetic ◽  
Monosomy 21 ◽  
Molecular Cytogenetic Techniques

Absence of de novo Y-chromosome microdeletions in male children conceived through intracytoplasmic sperm injection

2004 ◽  
Vol 82 (6) ◽  
pp. 1679-1680 ◽  
Author(s):  
Belén Buch ◽  
José Jorge Galán ◽  
Miguel Lara ◽  
Luis Miguel Real ◽  
Manuel Martínez-Moya ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Intracytoplasmic Sperm Injection ◽  
De Novo ◽  
Y Chromosome Microdeletions
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