OBJECTIVE To review all cases with segmental and/or complex uniparental disomy (UPD) and to discuss the impact of these cases on medical genetics. DESIGN Searching for published reports in PubMed and in the abstract books of the annual meetings of the American Society of Human Genetics and the European Society of Human Genetics up to March 2008. RESULTS In total, 26 cases with segmental UPD...

Objective—To review all cases with segmental and/or complex uniparental disomy (UPD), to study aetiology and mechanisms of formation, and to draw conclusions. Design—Searching published reports in Medline. Results—The survey found at least nine cases with segmental UPD and a normal karyotype, 22 cases with UPD of a whole chromosome and a simple or a nonhomologous Robertsonian translocation, eig...

OBJECTIVE To review all cases with segmental and/or complex uniparental disomy (UPD), to study aetiology and mechanisms of formation, and to draw conclusions. DESIGN Searching published reports in Medline. RESULTS The survey found at least nine cases with segmental UPD and a normal karyotype, 22 cases with UPD of a whole chromosome and a simple or a non-homologous Robertsonian translocation...

BACKGROUND Association between DNA alterations and clinical parameters as recurrence, survival or prognosis has been found in a variety of tumors. A clear association between Medullary Thyroid Carcinoma (MTC) and RET oncogene mutation has been accepted. Specifically M918T RET mutation represents the main genetic event in most cases of sporadic MTC (SMTC) and limited chromosomal alterations anal...

The aim of this project was to study possible influences of Turner syndrome (TS) karyotype and the number of X chromosomes with intact short arm (p-arm) on dental crown width. Primary and permanent mesio-distal crown width was measured on plaster casts from 112 TS females. The influence on crown width of four karyotypes: 1. monosomy (45,X), 2. mosaic (45,X/46,XX), 3. isochromosome, and 4. other...

Translocations involving the T-cell receptor (TCR) and TCL1 genes occur in T-cell precursor lymphoblastic leukemia/lymphoma and prolymphocytic leukemia; isochromosome 7q has been associated with hepatosplenic T-cell lymphoma. However, the incidence of these abnormalities in peripheral T-cell lymphomas (PTCLs) as a whole has not been well defined. We studied genetic abnormalities in 124 PTCLs se...

Deletion of 18p syndrome is characterized by dysmorphic features, growth deficiencies, and mental retardation with a poor verbal performance. Until now, few families have been described with limited clinical description. We report transmission of deletion 18p from a mother to his son. The proband is 8 years old and has short stature, dysmorphic features, polymorphous dyslalia and moderate menta...