11p13 Deletion Syndrome: First Case in Morocco Detected by FISH
نویسندگان
چکیده
Abdelhafid Natiq1,3*, Saadia Amasdl1, Thomas Liehr4 , Katharina Kreskowski4, Britta Meyer5, Ilhame Ratbi2, Saaid Amzazi3 and Abdelaziz Sefiani1,2 1Département de Génétique Médicale, Institut National d’Hygiène, Morocco 2Centre de génomique humaine, Faculté de médecine et de pharmacie, Université Mohammed V, Morocco 3Faculté des Sciences de Rabat, Université Mohamed V Agdal, Morocco 4Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Germany
منابع مشابه
A WAGR Syndrome Case with Postaxial Polydactyly
The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, Aniridia, Genito-urinary abnormalities, and growth and mental Retardation which is invariably associated with an 11p13 deletion. This deletion included the PAX6 and WT1 genes as previously reported in typical WAGR patients. Ocular defects result from hemizygosity for the PAX6 gene. Urogenital and renal abnormalities and...
متن کاملFISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13).
A 2 year old female presenting with bilateral sporadic aniridia was found to have an apparently balanced reciprocal translocation with a chromosome 11 breakpoint within band p13. Fluorescence in situ hybridisation (FISH) studies with distal 11p13 specific cosmids showed that the chromosome 11 breakpoint lay between the aniridia (PAX6) locus and a region approximately 100 kb distal to PAX6 defin...
متن کاملHitch-hiking from HRAS1 to the WAGR locus with CMGT markers
The clinical association of Wilms' tumour with aniridia, genitourinary abnormalities and mental retardation (WAGR syndrome) is characterised cytogenetically by variable length, constitutional deletion of the short arm of chromosome 11, which always includes at least part of band 11p13. HRAS1-selected chromosome mediated gene transfer (CMGT) generated a transformant, E65-6, in which the only hum...
متن کاملReactivation of Cytomegalovirus in a Patient with Stevens-Johnson Syndrome-Toxic Epidermal Necrolysis
Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are severe adverse cutaneous reactions to drugs. We describe the case of a 19 year old patient with SJS/TEN overlap syndrome, who developed severe interstitial pneumonia after she had received antiepileptic drugs. A cytomegalovirus infection was diagnosed by Real Time Polymerase Chain Reaction (RT-PCR) detection on Bronchoalveo...
متن کاملWAGR syndrome--a case report.
Congenital anomaly syndrome consisting of Wilms tumor, aniridia, genitourinary malformations and mental retardation (WAGR) is a rare, sporadic genetic disorder characterized by a de novo deletion in the distal band of 11p13 chromosome. The syndrome is usually recognized by sporadic aniridia present at birth, often followed by the development of Wilms tumor in early childhood, but possible at an...
متن کامل