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...

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Bibliografiska uppgifter
Huvudupphovsmän: Babameto-Laku, A, Mokini, V, Kuneshka, N, Sallabanda, S, Ylli, Z
Materialtyp: Artigo
Språk:Inglês
Publicerad: Macedonian Science of Sciences and Arts 2012
Ämnen:
Case Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3776668/
https://ncbi.nlm.nih.gov/pubmed/24052735
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2478/bjmg-2013-0010
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