Related Experiment Video

Updated: Jun 4, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
09:16

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

Published on: February 21, 2015

Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion

Marc Nelson1, Shane Quinonez, Todd Ackley

  • 1Department of Otolaryngology, University of Michigan, Ann Arbor, USA.

American Journal of Medical Genetics. Part A
|February 24, 2011
PubMed

Insights

A patient presented with multiple congenital anomalies, including developmental delay. Genetic analysis revealed a novel deletion on chromosome 16p13.3, potentially explaining the patient's complex condition.

Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Genetics

Background:

  • Multiple congenital anomalies (MCA) represent a significant challenge in clinical genetics.
  • Understanding the genetic underpinnings of MCA is crucial for diagnosis and counseling.

Observation:

  • A patient exhibited a spectrum of congenital anomalies: tracheobronchomalacia, metopic craniosynostosis, hypospadias with chordee, torticollis, strabismus, clinodactyly, hallux valgus, and global developmental delay.
  • High-resolution chromosomal microarray analysis detected a de novo 555 kb deletion on chromosome 16p13.3.

Findings:

  • The identified deletion is located telomeric to the CREBBP gene and centromeric to the PKD1 gene.
  • Literature review indicated limited overlap with previously reported deletions in this specific 16p13.3 region.
  • Haploinsufficiency of candidate genes within the deleted region is hypothesized to cause the observed clinical features, with 18 genes remaining as likely contributors after CNV analysis.

Implications:

  • This case expands the understanding of genotype-phenotype correlations for deletions in the 16p13.3 region.
  • Identifies a specific deletion interval that may be associated with a distinct MCA syndrome.
  • Highlights the utility of chromosomal microarray analysis in diagnosing complex congenital anomalies.

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

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

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Related Concept Videos

Genomic Imprinting and Inheritance02:30

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...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Meiosis I01:49

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Nondisjunction01:21

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...