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

Holoprosencephaly due to numeric chromosome abnormalities.

American journal of medical genetics. Part C, Seminars in medical genetics - 15 Feb 2010

Solomon Benjamin D, Rosenbaum Kenneth N, Meck Jeanne M, Muenke Maximilian

Abstract excerpt

Holoprosencephaly (HPE) is the most common malformation of the human forebrain. When a clinician identifies a patient with HPE, a routine chromosome analysis is often the first genetic test sent for laboratory analysis in order to assess for a structural or numerical chromosome anomaly. An abnorm...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Aberrations
Share to Chromosomes, Human, Pair 13
Share to Genetic Counseling

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Holoprosencephaly

Share to Infant, Newborn

Share to Polyploidy

Share to Pregnancy

Share to Prenatal Diagnosis

Source

Open in PubMed Open full text

Identifiers

PMID: 20104610
DOI: 10.1002/ajmg.c.30232
PMCID: PMC2815046

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20104610-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Holoprosencephaly due to numeric chromosome abnormalities.PMID 20104610Read ↗

Syndromes associated with holoprosencephaly.Semantic proximity Read ↗

Holoprosencephaly: recommendations for diagnosis and management.Semantic proximity Read ↗

Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and ManagementSemantic proximity Read ↗

Holoprosencephaly: A Survey of the Entity, with Embryology and Fetal ImagingSemantic proximity Read ↗

Holoprosencephaly.Semantic proximity Read ↗

Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984-1989.Semantic proximity Read ↗

Spectrum of holoprosencephaly.Semantic proximity Read ↗

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patientsSemantic proximity Read ↗

Neuropathology of holoprosencephalySemantic proximity Read ↗

Embryogenesis of holoprosencephaly.Semantic proximity Read ↗

Holoprosencephaly at prenatal diagnosis: analysis of 28 cases regarding etiopathogenic diagnoses.Semantic proximity Read ↗

Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly.Semantic proximity Read ↗

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