Miller-Dieker Syndrome with der(17)t(12;17)(q24.33;p13.3)pat Presenting with a Potential Risk of Mis-identification as a de novo Submicroscopic Deletion of 17p13.3-Reference-Cited by-同舟云学术

Miller-Dieker Syndrome with der(17)t(12;17)(q24.33;p13.3)pat Presenting with a Potential Risk of Mis-identification as a de novo Submicroscopic Deletion of 17p13.3

Published:2011-01-01 Issue:1 Volume:31 Page:49-53
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Kim Young Jin¹,Byun Shin Yun²,Jo Seon A¹,Shin Yong Beom³,Cho Eun Hae⁴,Lee Eun Yup¹,Hwang Sang-Hyun¹⁵

Affiliation:

1. Department of Laboratory Medicine, Pusan National University Hospital, Busan, Korea

2. Department of Pediatrics, Pusan National University Yangsan Hospital, Yangsan, Korea

3. Department of Rehabilitation Medicine, Pusan National University Hospital, Busan, Korea

4. Green Cross Reference Laboratory, Yongin, Korea

5. Medical Research Institute, Pusan National University Hospital, Busan, Korea

Funder

Pusan National University Hospital

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry (medical),Clinical Biochemistry,General Medicine

Link

https://synapse.koreamed.org/pdf/10.3343/kjlm.2011.31.1.49

Reference18 articles.

1. Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats

2. Miller-Dieker syndrome with ring chromosome 17.

3. PRENATAL AND POSTNATAL INVESTIGATION OF A CASE WITH MILLER–DIEKER SYNDROME DUE TO A FAMILIAL CRYPTIC TRANSLOCATION t(17;20) (p13.3;q13.3) DETECTED BY FLUORESCENCEIN SITU HYBRIDIZATION

4. Topical Review: Neuronal Migration Disorders, Genetics, and Epileptogenesis

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1. Acute Bowel Ischemia in a Premature Neonate with Miller-Dieker Syndrome and Anomalous Right Coronary Artery From the Pulmonary Artery;Pediatric Annals;2023-08

2. Genetic Causes, Clinical Manifestations and Diagnosis of Central Nervous System Malformations with Emphasis on Corpus Callosum;Journal of Contemporary Medical Sciences;2022-02-26

3. Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3;Frontiers in Genetics;2018-03-23

4. Miller-Dieker Syndrome due to a 5.5-Mb 17p Deletion in a 17;Y Pseudodicentric Chromosome;Cytogenetic and Genome Research;2017

5. Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review;Gene;2013-12