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

Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations.

Journal of medical genetics - 1 May 2002

Hernando C, Plaja A, Rigola M A, Pérez M M, Vendrell T, Egocue J, Fuster C

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 16
Share to Genomic variations and chromosomal abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Nucleic Acid Hybridization

Share to Phenotype

Share to Prenatal Screening and Diagnostics

Source

Open in PubMed Open full text

Identifiers

PMID: 12011165
DOI: 10.1136/jmg.39.5.e24
PMCID: PMC1735111

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations.PMID 12011165Read ↗

Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features.Semantic proximity Read ↗

Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies.Semantic proximity Read ↗

Prenatal diagnosis and molecular cytogenetic characterisation of a small de novo interstitial duplication 16q11.2-q13.Semantic proximity Read ↗

Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 16p13.11 microduplications.Semantic proximity Read ↗

The Phenotypic Spectrum of 16p11.2 Recurrent Chromosomal Rearrangements.Semantic proximity Read ↗

Phenotypic spectrum in patients with 16p11.2 deletion: a single tertiary centre experience in Türkiye.Semantic proximity Read ↗

A de novo insertion, detected prenatally, with normal phenotype.Semantic proximity Read ↗

16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.Semantic proximity Read ↗

Phenotype variant of the common duplication at 17p11.2.Semantic proximity Read ↗

A newborn with unusual morphology: some practical aspects.Semantic proximity Read ↗

A Chromosomal Deletion Map of Human MalformationsSemantic proximity Read ↗

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlationsSemantic proximity Read ↗

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