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Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay.


ABSTRACT: A patient with developmental delay and nine, de novo, tandem duplications affecting eight different chromosomes that arose on both maternal and paternal chromosomes indicating a vulnerable zygotic or early postzygotic period of development for these errors, potentially affected by genetic and nongenetic factors.

SUBMITTER: Tayeh MK 

PROVIDER: S-EPMC4498850 | biostudies-other | 2015 Jun

REPOSITORIES: biostudies-other

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Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay.

Tayeh Marwan K MK   Rocco Tracy T   Ackley Todd T   Ernst Leslie L   Glover Thomas T   Innis Jeffrey W JW  

Clinical case reports 20150409 6


A patient with developmental delay and nine, de novo, tandem duplications affecting eight different chromosomes that arose on both maternal and paternal chromosomes indicating a vulnerable zygotic or early postzygotic period of development for these errors, potentially affected by genetic and nongenetic factors. ...[more]