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Article

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.

American journal of medical genetics - 16 Jul 1999

Mutchinick O M, Shaffer L G, Kashork C D, Cervantes E I

Abstract excerpt

Trisomy 5p and Miller-Dieker syndromes frequently are the result of unbalanced segregations of reciprocal translocations of chromosomes 5 and 17 with other autosomes. The critical regions for the expression of the mentioned syndromes have been mapped to 5p13-->pter, and 17p13.3-->pter. In this report, we describe an 8-year-old girl with mental retardation, postnatal growth deficiency, generalized muscular...

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Identifiers

PMID: 10406660
DOI: 10.1002/(sici)1096-8628(19990716)85:2<99::aid-ajmg1>3.0.co;2-w

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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.PMID 10406660Read ↗

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.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 ↗

Clinical and molecular genetic findings in five patients with Miller-Dieker syndrome.Semantic proximity Read ↗

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

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

Microdeletion in distal 17p13.1: a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability.Semantic proximity Read ↗

Report of a child with a complete de novo 17p duplication localized to the terminal region of the long arm of chromosome 17.Semantic proximity Read ↗

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.Semantic proximity Read ↗

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