Jazmín Belén Martínez, Josefina María Álvarez Arancedo, Andrea Solari, Aldana Claps, Tania Castro, Julieta Eva Laiseca, Melisa Taboas
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引用次数: 0
Abstract
Prader-Willi syndrome (PWS) is an uncommon genetic disorder caused by the lack of expression of a cluster of genes located in the 15q11.2q13 region, which are normally expressed only from the paternally-inherited allele due to genomic imprinting. PWS can result from a deletion of the 15q11.2q13 region on the paternally-inherited chromosome 15, maternal uniparental disomy, or imprinting defects. We report a patient with an atypical deletion within 15q11.2q13 and a PWS phenotype, including hypotonia, feeding difficulties, short stature, developmental delay, and dysmorphisms. She has a deletion from TUBGCP5 to SNURF-SNRPN (including the imprinting center) but not the SNORD region. These types of reports are crucial for further supporting the established role of the imprinting center in the pathophysiology and critical region of PWS.
期刊介绍：
Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice.
Topics of particular interest are:
• Linking genetic variations to disease
• Genome rearrangements and disease
• Epigenetics and disease
• The translation of genotype to phenotype
• Genetics of complex disease
• Management/intervention of genetic diseases
• Novel therapies for genetic diseases
• Developmental biology, as it relates to clinical genetics
• Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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