Home LiteratureArticle Details

PMID: 12011165 Published · ppublish English Case Reports Comparative Study Letter Research Support, Non-U.S. Gov't

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

Journal of medical genetics ·Vol. 39 ·No. 5 ·2002-05-00 ·Pages E24

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

Abstract

暂无摘要

MeSH Terms

Abnormalities, Multiple/diagnosis,genetics Chromosome Deletion Chromosomes, Human, Pair 16/ultrastructure Humans Infant, Newborn Male Nucleic Acid Hybridization Phenotype

Authors & Affiliations

7 authors, click to expand affiliations / ORCID

Hernando C

Plaja A

Rigola M A

Pérez M M

Vendrell T

Egocue J

Fuster C

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

1468-6244

DOI

10.1136/jmg.39.5.e24

Published

2002-05-00

Pages

E24

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1735111

Subset

External Links

PubMed source DOI: 10.1136/jmg.39.5.e24 PMC Full Text View journal details

Analysis Services

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

Contact

WeChat Official Account