Related Experiment Video

Updated: Aug 9, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Duplication of 5q15-q23.2: case report and literature review

Jaclyn Douyard¹, Pamela Hawley, Meira Shaham

¹Program in Genomics, Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

Birth Defects Research. Part A, Clinical and Molecular Teratology

|April 8, 2006

Abstract

Background:

Pure partial trisomy of chromosome 5q is rare and cases have ranged over the entire region, making it difficult to describe a good phenotypic correlation to the cytogenetic duplication.

Case:

We present a 4.5-year-old girl with a de novo direct duplication of chromosome 5q15-q23.2. She has moderate developmental delay with lack of speech, microcephaly, and subtle dysmorphic features including prominent forehead, bulbous nose, epicanthic folds, protruding tongue, and slightly posteriorly-rotated ears.

Conclusions:

A comparison is made with other similar duplication cases reported in the literature and a general description of a proximal 5q duplication phenotype is given, with lack of speech as the principal feature.

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Related Concept Videos

Karyotyping

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...

Genomic Imprinting and Inheritance

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...

Articles linked to this work by shared authors, journal, and citation graph.

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood.

American journal of medical genetics. Part A·2026

Influence of Molecular Genetic Classes on Behavior in Prader-Willi Syndrome.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics·2026

Characterization of the frameshift c.515dupC knock-in mouse model of HSPB8-associated myopathy (MFM13) and evaluation of Trehalose as autophagy-modulating therapy.

bioRxiv : the preprint server for biology·2026

Phenotype variability in six new patients with beta-mannosidosis.

Molecular genetics and metabolism·2026

Clinical studies in 82 individuals with valosin-containing protein (VCP) associated multisystem proteinopathy and literature review.

Neuromuscular disorders : NMD·2026

Glycoproteinoses: Clinical features, therapeutic landscape, and regulatory pathways in rare lysosomal disorders.

Molecular genetics and metabolism·2026

See all related articles