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

Localization of the Miller-Dieker critical region is proximal to locus D17S34 (p144D6) in 17p13.3.

Genomics - 1 Aug 1990

Schwartz C E, Sauer S M, Brown A M, Divelbiss J E, Patil S R

Abstract excerpt

A child with normal growth and development and the abnormal karyotype 46,XY,17ps, was analyzed using molecular probes localized to 17p13. The results indicated the presence of two copies of the probes YNZ22.1 (D17S5) and YNH37.3 (D17S28), previously shown to be deleted in all Miller-Dieker (MDS) patients studied. However, the patient was hemizygous for probe p144D6 (D17S34), which is absent in approximately 75%...

Read the complete abstract on PubMed

Topics

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

Share to Blotting, Southern
Share to Brain
Share to Chromosome Aberrations

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

Share to Chromosome Mapping

Share to Infant

Share to Karyotyping

Share to Phenotype

Share to Syndrome

Source

Identifiers

PMID: 2387588
DOI: 10.1016/0888-7543(90)90208-c

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 · 9 closest

Localization of the Miller-Dieker critical region is proximal to locus D17S34 (p144D6) in 17p13.3.PMID 2387588Read ↗

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

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 ↗

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

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 ↗

Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy.Semantic proximity Read ↗

Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications.Semantic proximity Read ↗

Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction.Semantic proximity Read ↗

The 13q- syndrome: the molecular definition of a critical deletion region in band 13q32.Semantic proximity Read ↗

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients.Semantic proximity Read ↗

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