scholarly journals FISH and array CGH characterization of de novo derivative Y chromosome (Yq duplication and partial Yp deletion) in an azoospermic male

2015 ◽  
Vol 31 (2) ◽  
pp. 217-224 ◽  
Author(s):  
Ewa Wiland ◽  
Alexander N. Yatsenko ◽  
Archana Kishore ◽  
Halina Stanczak ◽  
Agata Zdarta ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Array Cgh ◽  
De Novo

scholarly journals Cytogenetic and Array-CGH Characterization of a Complex de novo Rearrangement Involving Duplication and Deletion of 9p and Clinical Findings in a 4-Month-Old Female

2009 ◽  
Vol 126 (3) ◽  
pp. 305-312 ◽  
Author(s):  
P.J. Hulick ◽  
K.M. Noonan ◽  
S. Kulkarni ◽  
D.J. Donovan ◽  
M. Listewnik ◽  
...  
Keyword(s):  
Array Cgh ◽  
De Novo ◽  
Clinical Findings

Nonmosaic Trisomy 19p13.3p13.2 Resulting from a Rare Unbalanced t(Y;19)(q12;p13.2) Translocation in a Patient with Pachygyria and Polymicrogyria

2020 ◽  
Vol 160 (4) ◽  
pp. 177-184
Author(s):  
Daniel Martínez Anaya ◽  
Liliana Fernández Hernández ◽  
Ariadna González del Angel ◽  
Miguel A. Alcántara Ortigoza ◽  
Verónica Ulloa Avilés ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Y Chromosome ◽  
De Novo ◽  
Heart Defects ◽  
Clinical Spectrum ◽  
Unbalanced Translocation ◽  
Craniofacial Anomalies ◽  
Genetic Condition ◽  
Cytogenetic Characterization

Nonmosaic trisomy involving 19p13.3p13.2 is a very uncommon abnormality. At present, only 12 cases with this genetic condition have been reported in the literature. However, the size of the trisomic fragment is heterogeneous and thus, the clinical spectrum is variable. Herein, we report the clinical and cytogenetic characterization of a 5-year-old boy with nonmosaic trisomy 19p13.3p13.2 (7.38 Mb), generated by a derivative Y chromosome resulting from a de novo unbalanced translocation t(Y;19)(q12;p13.2). We demonstrated the integrity of the euchromatic regions in the abnormal Y chromosome to confirm the pure trisomy 19p. Our patient shares some clinical features described in other reported patients with pure trisomy 19p, such as craniofacial anomalies, developmental delay, and heart defects. Different to previous reports, our case exhibits frontal pachygyria and polymicrogyria. These additional features contribute to further delineate the clinical spectrum of trisomy 19p13.3p13.2.

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.

Array-CGH characterization of a de novo t(X;Y)(p22;q11) in a female with short stature and mental retardation

Gene ◽  
2012 ◽  
Vol 504 (1) ◽  
pp. 107-110 ◽  
Author(s):  
Chiara Palka-Bayard-de-Volo ◽  
Stefania De Marco ◽  
Valentina Chiavaroli ◽  
Melissa Alfonsi ◽  
Giuseppe Calabrese ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Short Stature ◽  
Array Cgh ◽  
De Novo

Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7

2015 ◽  
Vol 147 (2-3) ◽  
pp. 111-117 ◽  
Author(s):  
Camille Louvrier ◽  
Grégory Egea ◽  
Audrey Labalme ◽  
Vincent Des Portes ◽  
Sophie Gazzo ◽  
...  
Keyword(s):  
Array Cgh ◽  
De Novo ◽  
Ring Chromosome ◽  
Partial Trisomy ◽  
Complete Characterization ◽  
Chromosome 7 ◽  
Oligonucleotide Array ◽  
Facial Dysmorphism ◽  
Bioinformatic Tools

Supernumerary ring chromosomes (SRC) are usually derived from regions adjacent to the centromere. Their identification may be challenging, particularly in case of low mosaicism. Here, we report on a patient who was referred for major in utero growth retardation, severe developmental delay, facial dysmorphism, cleft palate, and hypospadias. The karyotype showed a small SRC in mosaic. The combination of FISH, M-FISH and array-CGH was necessary for a complete characterization of this SRC. M-FISH revealed that the SRC originated from chromosome 7. Array-CGH performed with a 400K oligonucleotide array showed a gain in region 7q22.1q31.1 present in low mosaic. This result was confirmed by FISH using BAC probes specific for chromosome 7. The SRC was a neocentric ring derived from 7q22.1q31.1 and was found in only 8% of the cells. This is the first patient carrying a mosaic neocentric SRC derived from the long arm of chromosome 7. Our study emphasizes the need to combine different techniques and to use adapted bioinformatic tools for low-mosaicism marker identification. It also contributes to the delineation of the partial trisomy 7q phenotype.

Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus

2011 ◽  
Vol 54 (3) ◽  
pp. 333-336 ◽  
Author(s):  
Chiara Palka ◽  
Melissa Alfonsi ◽  
Elisena Morizio ◽  
Alessandra Soranno ◽  
Daniela La Rovere ◽  
...  
Keyword(s):  
Array Cgh ◽  
De Novo ◽  
Male Fetus

scholarly journals Characterization of De Novo Synthesized GPCRs Supported in Nanolipoprotein Discs

PLoS ONE ◽  
2012 ◽  
Vol 7 (9) ◽  
pp. e44911 ◽  
Author(s):  
Tingjuan Gao ◽  
Jitka Petrlova ◽  
Wei He ◽  
Thomas Huser ◽  
Wieslaw Kudlick ◽  
...  
Keyword(s):  
De Novo
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