Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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.

The Korean journal of laboratory medicine - 1 Jan 2011

Kim Young Jin, Byun Shin Yun, Jo Seon A, Shin Yong Beom, Cho Eun Hae, Lee Eun Yup, Hwang Sang-Hyun

Abstract excerpt

Miller-Dieker syndrome involves a severe type of lissencephaly, which is caused by defects in the lissencephaly gene (LIS1). We report the case of a female infant with der(17)t(12;17)(q24.33;p13.3)pat caused by an unbalanced segregation of the parental balanced translocation of 17p with other chromosomes. The proband presented with facial dysmorphism, arthrogryposis, and intrauterine growth retardation. Most...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Chromosome Banding

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosome Segregation

Share to Chromosomes, Human, Pair 12

Share to Chromosomes, Human, Pair 17

Share to In Situ Hybridization, Fluorescence

Share to Karyotyping

Share to Translocation, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 21239872
DOI: 10.3343/kjlm.2011.31.1.49
PMCID: PMC3111033

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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.PMID 21239872Read ↗

Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci.Semantic proximity Read ↗

A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.Semantic proximity Read ↗

Neuronal migration genes and a familial translocation t(3;17): Candidate genes implicated in the phenotypeSemantic proximity Read ↗

Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype.Semantic proximity Read ↗

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.Semantic proximity Read ↗

"Essentially pure" partial trisomy (6)(p23-->pter) in two brothers due to maternal t(6;17)(p23;p13.3).Semantic proximity Read ↗

A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 (LIS1) gene.Semantic proximity Read ↗

Clinical and molecular diagnosis of Miller-Dieker syndrome.Semantic proximity Read ↗

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome.Semantic proximity Read ↗

17p13.1 microdeletion: genetic and clinical findings in a new patient with epilepsy and comparison with literature.Semantic proximity Read ↗

Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2).Semantic proximity Read ↗

Characterization of a Rare Mosaic Unbalanced Translocation of t(3;12) in a Patient With Neurodevelopmental DisordersSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.