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

Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2009

Adams Sara Anne, Coppinger Justine, Saitta Sulagna C, Stroud Tracy, Kandamurugu Manikum, Fan Zheng, Ballif Blake C, Shaffer Lisa G, Bejjani Bassem A

Abstract excerpt

BACKGROUND: The use of microarray-based comparative genomic hybridization has allowed the genetic diagnosis of some conditions before their full clinical presentation. This "genotype-first" diagnosis has the most clinical implications for genomic alterations that confer an elevated risk of cancer. In these cases, diagnosis before the manifestation of the patient's full phenotype dramatically impacts genetic...

Read the complete abstract on PubMed

Topics

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

Share to Comparative Genomic Hybridization
Share to Congenital Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to Gene Duplication

Share to Karyotyping

Share to Microarray Analysis

Share to Neoplasms

Share to Sequence Deletion

Source

Identifiers

PMID: 19365269
DOI: 10.1097/GIM.0b013e3181a028a5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH.PMID 19365269Read ↗

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital AnomaliesSemantic proximity Read ↗

Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay.Semantic proximity Read ↗

Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in KoreaSemantic proximity Read ↗

Analytical and Clinical Validity Study of FirstStep <sup>Dx</sup> PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental ConditionsSemantic proximity Read ↗

Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era.Semantic proximity Read ↗

Chromosomal microarray impacts clinical managementSemantic proximity Read ↗

Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years’ clinical application for over 8,700 patientsSemantic proximity Read ↗

Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogeneticsSemantic proximity Read ↗

Whole‐genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarraySemantic proximity Read ↗

Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples.Semantic proximity Read ↗

Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays.Semantic proximity Read ↗

Diagnostic utility of array‐based comparative genomic hybridization in a clinical settingSemantic proximity Read ↗

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