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- Title
Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay.
- Authors
Tayeh, Marwan K.; Rocco, Tracy; Ackley, Todd; Ernst, Leslie; Glover, Thomas; Innis, Jeffrey W.
- Abstract
Key Clinical Message 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.
- Subjects
CHROMOSOME structure; METAPHASE (Mitosis); DIAGNOSTIC use of in-situ hybridization; FLUORIMETRY; IN situ hybridization
- Publication
Clinical Case Reports, 2015, Vol 3, Issue 6, p396
- ISSN
2050-0904
- Publication type
Article
- DOI
10.1002/ccr3.241