Related Experiment Video

Updated: Jul 20, 2026

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
12:47

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

Published on: February 3, 2012

Cri du Chat syndrome

Paola Cerruti Mainardi1

  • 1Paediatrics Department and Genetics Unit, S.Andrea Hospital, Vercelli, Italy. pcerruti@net4u.it

Orphanet Journal of Rare Diseases
|September 7, 2006
PubMed

Insights

Cri du Chat syndrome (CdCS) is a genetic disorder caused by a deletion on chromosome 5p. Understanding genotype-phenotype correlations aids diagnosis and prognosis for this condition.

Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Cri du Chat syndrome (CdCS) is a genetic disorder caused by a deletion on the short arm of chromosome 5 (5p-).
  • It affects approximately 1 in 15,000 to 50,000 live-born infants, presenting with characteristic features like a high-pitched cry, microcephaly, and intellectual disability.
  • While malformations can occur, the primary focus is on the genetic basis and its phenotypic manifestations.

Purpose of the Study:

  • To define a cytogenetic and phenotypic map of the 5p region.
  • To investigate genotype-phenotype correlations for diagnostic and prognostic relevance.
  • To identify candidate genes involved in the cerebral development and phenotypic changes associated with CdCS.

Main Methods:

  • Molecular cytogenetic analysis, including array comparative genomic hybridization (aCGH).
  • Quantitative polymerase chain reaction (PCR) to refine critical regions and characterize candidate genes.
  • Karyotype analysis and Fluorescence In Situ Hybridization (FISH) for diagnostic confirmation.

Main Results:

  • Genotype-phenotype correlation studies revealed significant clinical and cytogenetic variability.
  • Refined critical regions on 5p using advanced molecular techniques.
  • Identified potential candidate genes, including SEMAF, CTNND2, and hTERT, implicated in CdCS.

Conclusions:

  • The identification of specific deletion sizes and types is crucial for diagnosis and prognosis in CdCS.
  • Early intervention and educational support significantly improve outcomes for individuals with CdCS.
  • Continued research into the critical regions and candidate genes will enhance understanding and management of the syndrome.

More Related Videos

FISH for Pre-implantation Genetic Diagnosis07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

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

Related Concept Videos

Karyotyping01:17

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...
Karyotyping01:17

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...
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...
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.
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.