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.

doi:10.3343/kjlm.2011.31.1.49

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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...

Topics

Abnormalities, Multiple
Adult
Brain
Chromosome Banding
Chromosome Segregation
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 17
Classical Lissencephalies and Subcortical Band Heterotopias
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Gene Deletion

Humans

In Situ Hybridization, Fluorescence

Infant, Newborn

Karyotyping

Magnetic Resonance Imaging

Male

Phenotype

Risk

Source

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Identifiers

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

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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 ↗

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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 ↗

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