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16p Subtelomeric Duplication with Vascular Anomalies: an Albanian Case Report and Literature Review
A patient with karyotype 46,XY,der(4) was recognized by standard cytogenetic techniques, and presented with facial features, neurological impairment and pulmonary hypertension. Multiplex ligation-dependent probe amplification (MLPA) demonstrated duplication of the subtelomeric region of chromosome 1...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Macedonian Science of Sciences and Arts
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776668/ https://www.ncbi.nlm.nih.gov/pubmed/24052735 http://dx.doi.org/10.2478/bjmg-2013-0010 |