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Mostrando ítems 11-20 de 141
Coexistence of cytotypes and chromosomal mosaicism in Hoplias malabaricus (Characiformes, Erythrinidae)
(Sociedad de Biología de Chile, 2009)
Parkinson’s Disease in a Patient with 22q11.2 Deletion Syndrome: The Relevance of Detecting Mosaicisms by Means of Cell-By-Cell Evaluation Techniques
(OMICS, 2015-12)
We report the case of a male patient from an Ashkenazi Jewish ethnic group with a history of midline defects (congenital heart disease, high-arched palate and bifid uvula). At the age of 46 years, he came to our center ...
A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state
(ElsevierAmsterdam, 2012)
Selective advantage of euploid spermatocytes i in an azoospermic 47,XYY man with gonadal mosaicism
(Oxford University Press, 2019-03)
Although most XYY men have normal sperm counts and are fertile (supposedly due to the loss of the extra Y before meiosis), there is a minority who are infertile. In these cases, the XYY spermatocytes are able to enter ...
Uso da FISH em mucosa oral para investigação de mosaicismo com linhagem 45,X: estudo com homens saudáveis e pacientes com distúrbios da diferenciação do sexoThe use of FISH on buccal smear to investigate mosaicism with a 45,X cell line: study on healthy men and patients with disorders of sex development
(Sociedade Brasileira de Endocrinologia e Metabologia, 2014)
New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl
(2003)
The phenotypic expression of an additional chromosome 9 causes a very broad clinical spectrum of anomalies. The prognosis for infants with non-mosaic tetrasomy 9p is poor, and they usually die at a very early age. CASE: ...