Molecular Cytogenetic Characterization of Two Cases with de novo Small Mosaic Supernumerary Marker Chromosomes Derived from Chromosome 16: Towards a Genotype/Phenotype Correlation

2009 ◽  
Vol 125 (2) ◽  
pp. 109-114 ◽  
Author(s):  
J.B. Melo ◽  
E. Matoso ◽  
A. Polityko ◽  
J. Saraiva ◽  
L. Backx ◽  
...  
Keyword(s):  
De Novo ◽  
Chromosome 16 ◽  
Phenotype Correlation ◽  
Marker Chromosomes ◽  
Molecular Cytogenetic ◽  
Genotype Phenotype Correlation ◽  
Cytogenetic Characterization ◽  
Supernumerary Marker Chromosomes

Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment

2015 ◽  
Vol 146 (1) ◽  
pp. 39-43 ◽  
Author(s):  
Elisa Tassano ◽  
Alessandra Gamucci ◽  
Maria E. Celle ◽  
Patrizia Ronchetto ◽  
Cristina Cuoco ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Language Impairment ◽  
Array Cgh ◽  
De Novo ◽  
Phenotype Correlation ◽  
Molecular Cytogenetic ◽  
Genotype Phenotype Correlation ◽  
Cytogenetic Characterization ◽  
Inducible Gene

Interstitial 1p deletions are rare events. Very few cases of 1p31.1p31.3 deletions characterized by variable phenotypes have been reported. No clear genotype-phenotype correlation has been determined yet. We present a child with a de novo interstitial 1p31.1p31.3 deletion, identified by array CGH, associated with intellectual disability and severe language impairment. The deleted region contains 20 OMIM genes, but we focused on GADD45A (MIM 126335; growth arrest- and DNA damage-inducible gene), LRRC7 (MIM 614453; leucine-rich repeat-containing protein 7), and NEGR1 (MIM 613173; neuronal growth regulator 1). We discuss whether these genes play a role in determining the phenotype of our patient in order to investigate the possibility of a genotype-phenotype correlation.

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
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