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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Bibliografske podrobnosti

Principais autores:	Babameto-Laku A., Mokini V., Kuneshka N., Sallabanda S., Ylli Z.
Format:	Artigo
Jezik:	Inglês
Izdano:	Sciendo 2012-12-01
Serija:	Balkan Journal of Medical Genetics
Teme:	duplication chromosome 16p multiplex ligation-dependent probe amplification (mlpa) technique pulmonary hypertension
Online dostop:	https://doi.org/10.2478/bjmg-2013-0010
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