Prenatal identification of partial 3q duplication syndrome

Prenatal identification of partial 3q duplication syndrome

Abstract Background The 3q duplication syndrome is a result of duplication of a large fragment of the long arm of chromosome 3, mainly 3q21-qter, and in most cases it is diagnosed only after birth. The phenotypic consequences resulting from genetic imbalance are an important source of information fo...

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Bibliographic Details
Main Authors: Magdalena Pasińska, Rafał Adamczak, Anna Repczyńska, Ewelina Łazarczyk, Barbara Iskra, Agata Klaudia Runge, Olga Haus
Format: Article
Language:English
Published: BMC 2019-06-01
Series:BMC Medical Genomics
Subjects:
Prenatal diagnosis
Ultrasounds
3q duplication
Genetic syndrome
Online Access:http://link.springer.com/article/10.1186/s12920-019-0547-y

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http://link.springer.com/article/10.1186/s12920-019-0547-y

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