Relationship between clinical and genetic features in "inverted duplicated chromosome 15" patients.

doi:10.1016/s0887-8994(00)00244-7

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Article

Relationship between clinical and genetic features in "inverted duplicated chromosome 15" patients.

Pediatric neurology - 1 Feb 2001

Borgatti R, Piccinelli P, Passoni D, Dalprà L, Miozzo M, Micheli R, Gagliardi C, Balottin U

Abstract excerpt

Inverted duplicated chromosome 15 (Inv dup [15]) syndrome is a genetic disorder characterized by psychologic or intellectual language delay; neurologic signs, such as hypotonia, ataxia, and epilepsy; mental retardation ranging from mild to severe; and facial dysmorphisms. All patients present wit...

Topics

Adolescent
Autistic Disorder
Child
Child Development Disorders, Pervasive
Child, Preschool
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 15
Epilepsy
Genes, Duplicate
Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Intellectual Disability

Male

Microsatellite Repeats

Phenotype

Polymorphism, Genetic

Severity of Illness Index

Source

Open in PubMed

Identifiers

PMID: 11275459
DOI: 10.1016/s0887-8994(00)00244-7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-11275459-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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