scholarly journals Molecular Cytogenetic Evidence for a Common Breakpoint in the Largest Inverted Duplications of Chromosome 15

1998 ◽  
Vol 62 (4) ◽  
pp. 925-936 ◽  
Author(s):  
A.E. Wandstrat ◽  
J. Leana-Cox ◽  
L. Jenkins ◽  
S. Schwartz
Keyword(s):  
Chromosome 15 ◽  
Molecular Cytogenetic ◽  
Cytogenetic Evidence

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients

2004 ◽  
Vol 130A (4) ◽  
pp. 340-344 ◽  
Author(s):  
Z. Tümer ◽  
T.L. Harboe ◽  
E. Blennow ◽  
V.M. Kalscheuer ◽  
N. Tommerup ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 15 ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

Phenotype-Karyotype-Genotype Correlations in Prader-Willi and Angelman Syndromes: Preliminary Results

1996 ◽  
Vol 45 (1-2) ◽  
pp. 227-231
Author(s):  
A. Cecconi ◽  
D.J. Halley ◽  
A. Salvi ◽  
C. Balestrieri ◽  
E. Lapi ◽  
...  
Keyword(s):  
Human Genetics ◽  
Uniparental Disomy ◽  
Clinical Genetics ◽  
Chromosome 15 ◽  
Nuclear Families ◽  
Molecular Cytogenetic ◽  
Preliminary Study ◽  
Molecular Cytogenetic Techniques ◽  
University Of Florence ◽  
Rule Out

Prader-Willi Syndrome (PWS) and Angelman Syndrome (AS) are well established as models of Genomic Imprinting in humans, since completely different phenotypes are generated by the absence of paternal (PWS) or maternal (AS) contribution to the q11-13 region of chromosome 15 as a result of deletion or uniparental disomy. We report a preliminary study based on our experience of more than 20 years of research into the genetics of PWS and AS syndromes.Thirty nine subjects, referred from a number of Centers and Medical Doctors have been examined to either confirm or rule out a diagnosis of PWS or AS.Patients were evaluated through the Clinical Genetics and Dysmorphology Program at the Human Genetics Center, Dept. of Paediatrics, University of Florence.Clinical evaluation showed that 10 of these patients fulfilled diagnostic criteria for PWS and 8 for AS.All patients were isolated cases and the 18 nuclear families were unrelated.We adopted the staged diagnostic approach for all our families diagnosed PWS or AS families, moleucular using cytogenetic, genetic and molecular cytogenetic techniques.

scholarly journals Flying lemurs – The 'flying tree shrews'? Molecular cytogenetic evidence for a Scandentia-Dermoptera sister clade

BMC Biology ◽  
2008 ◽  
Vol 6 (1) ◽  
pp. 18 ◽  
Author(s):  
Wenhui Nie ◽  
Beiyuan Fu ◽  
Patricia CM O'Brien ◽  
Jinhuan Wang ◽  
Weiting Su ◽  
...  
Keyword(s):  
Tree Shrews ◽  
Molecular Cytogenetic ◽  
Sister Clade ◽  
Cytogenetic Evidence

Cytogenetic and molecular cytogenetic evidence of recurrent 8q24.1 loss in osteochondroma

2002 ◽  
Vol 137 (2) ◽  
pp. 102-107 ◽  
Author(s):  
Michael G Feely ◽  
Amber K Boehm ◽  
Robert S Bridge ◽  
Pamela A Krallman ◽  
James R Neff ◽  
...  
Keyword(s):  
Molecular Cytogenetic ◽  
Cytogenetic Evidence
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