3q29 Chromosomal duplication in a neonate with associated myelomeningocele and midline cranial defects-Reference-Cited by-同舟云学术

3q29 Chromosomal duplication in a neonate with associated myelomeningocele and midline cranial defects

Published:2017-10 Issue:4 Volume:26 Page:221-223
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Lawrence Marley B.,Arreola Alexandra,Cools Michael,Elton Scott,Wood Karen S.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference9 articles.

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2. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication;Ballif;Mol Cytogenet,2008

3. Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2;Dworschak;Clin Genet,2017

4. Familial partial trisomy of the long arm of chromosome 3 (3q);Fear;Arch Dis Child,1979

5. Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome;Fernandez-Jaen;Am J Med Genet A,2014

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1. Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury;Molecular Case Studies;2020-12

2. New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry;American Journal of Medical Genetics Part A;2020-03-10

3. Systematic Description of 3q29 Duplication Syndrome Reveals New Syndromic Phenotypes: Results from the 3q29 Registry;2019-07-11