Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Pleiotropy01:33

Pleiotropy

31.2K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
31.2K
Case Studies01:22

Case Studies

11.3K
There are many research methods available to psychologists in their efforts to understand, describe, and explain behavior and the cognitive and biological processes that underlie it.
11.3K
Sex Linked Disorders01:43

Sex Linked Disorders

28.6K
28.6K
Sex-linked Disorders01:43

Sex-linked Disorders

93.8K
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.
93.8K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

30.1K
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...
30.1K
X-linked Traits01:19

X-linked Traits

45.5K
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”.
45.5K

You might also read

Related Articles

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

Sort by
Same author

Prenatal Diagnosis and Genomics in India - Historical Review, Current Status and Road Ahead.

Indian journal of pediatrics·2026
Same author

Disparate language and model effects on AI-based translation and recognition of genetic conditions.

Journal of the American Medical Informatics Association : JAMIA·2026
Same author

Face Speaks: Visual Interpretation Vis-à-vis AI in Swaroopology.

Indian journal of pediatrics·2026
Same author

Experience of Prenatal Diagnosis for β-Thalassemia and Major Hemoglobinopathies in the Last Decade from Seven Tertiary-Care Referral Centers in India.

Indian journal of pediatrics·2026
Same author

Implementation of DOPS (Direct Observation of Procedural Skills) as formative assessment tool to enhance procedural skills in anesthesia postgraduate students.

Saudi journal of anaesthesia·2026
Same author

Clinical and Genetic Characterization of Patients with ADNP Related Helsmoortel-Van der Aa Syndrome.

Indian journal of pediatrics·2026

Related Experiment Video

Updated: Apr 27, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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

7.9K

Williams syndrome: a case series.

Subapriya Kandasamy1, Deepti Saxena, Yougal Kishore

  • 1Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, UP, India. Correspondence to: Dr Shubha R Phadke, Professor and Head, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India. shubharaophadke@gmail.com.

Indian Pediatrics
|June 24, 2014
PubMed
Summary
This summary is machine-generated.

Pediatricians' awareness of Williams syndrome, a microdeletion disorder, aids early diagnosis. Confirming this genetic condition helps manage associated health issues and offers crucial family genetic counseling.

More Related Videos

Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
09:39

Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Published on: December 4, 2021

2.5K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

12.4K

Related Experiment Videos

Last Updated: Apr 27, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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

7.9K
Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
09:39

Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Published on: December 4, 2021

2.5K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

12.4K

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Diagnostics

Background:

  • Williams syndrome is a genetic disorder caused by a microdeletion on chromosome 7.
  • It presents with distinct facial features, developmental delays, and cardiovascular issues.
  • Early recognition by pediatricians is crucial for effective management.

Observation:

  • The abstract highlights the importance of pediatrician awareness regarding malformation syndromes.
  • Williams syndrome is characterized by a specific set of physical and behavioral traits.
  • Diagnostic confirmation methods include fluorescence-in-situ hybridization (FISH) and multiplex ligation probe amplification (MLPA).

Findings:

  • Timely diagnosis of Williams syndrome facilitates the identification of associated hypercalcemia and cardiac defects.
  • Genetic confirmation is achievable through advanced molecular techniques.
  • Awareness empowers pediatricians to initiate appropriate diagnostic pathways.

Implications:

  • Accurate diagnosis of Williams syndrome leads to better patient outcomes through targeted interventions.
  • Genetic counseling for families affected by Williams syndrome is essential for understanding inheritance and recurrence risks.
  • Enhanced pediatrician knowledge of rare genetic syndromes improves the standard of pediatric care.