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

Pedigree Analysis01:35

Pedigree Analysis

78.9K
Overview
78.9K
Sex Linked Disorders01:43

Sex Linked Disorders

28.9K
28.9K
Translation01:31

Translation

16.8K
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
16.8K
Translation01:31

Translation

133.7K
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
133.7K
Sex-linked Disorders01:43

Sex-linked Disorders

95.2K
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.
95.2K
Genetic Lingo01:11

Genetic Lingo

84.9K
Overview
84.9K

You might also read

Related Articles

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

Sort by
Same author

Integrated care for type 1 diabetes: The West Bengal model: 24-month follow-up.

Diabetic medicine : a journal of the British Diabetic Association·2026
Same author

ECHO-T2D - economic, clinical epidemiologic, and humanistic profiling of diabetic retinopathy, diabetic kidney disease, and painful diabetic peripheral neuropathy in India: A systematic review protocol.

MethodsX·2026
Same author

Trabecular Bone Score and Bone Turnover Markers Unmask Early Skeletal Fragility in Children and Adolescents With Type 1 Diabetes.

AACE endocrinology and diabetes·2026
Same author

Female sexual dysfunction in type 1 diabetes: a systematic review and meta-analysis.

Endocrine·2026
Same author

Integrated multicompartment urinary long non-coding RNAs profiling (cellular, cell-free, and extracellular vesicle) for better differential diagnosis of biopsy-proven diabetic and non-diabetic kidney disease beyond conventional markers.

BMJ open diabetes research & care·2026
Same author

Sodium-Glucose Cotransporter 2 Inhibitors in Kidney Diseases Other Than That Due to Diabetes: Benefits in Composite Renal Outcomes Driven by Immunoglobulin A Nephropathy.

The Journal of the Association of Physicians of India·2026

Related Experiment Video

Updated: May 5, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

8.9K

Tale of two rare diseases.

Ravindra Shukla1, Asish Kumar Basu, Biplab Mandal

  • 1Department of Endocrinology, Medical College, Kolkata, West Bengal, India.

Indian Journal of Endocrinology and Metabolism
|November 20, 2013
PubMed
Summary

Idiopathic Hypogonadotropic hypogonadism (IHH) is linked to mosaic trisomy 13 in a rare case. This genetic finding may offer new insights into IHH causes.

Keywords:
Idiopathic hypogonadotropic hypogonadismKallman syndrome genesmosaic trisomy13shallow olfactory

More Related Videos

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
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.2K

Related Experiment Videos

Last Updated: May 5, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

8.9K
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
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.2K

Area of Science:

  • Genetics
  • Endocrinology
  • Reproductive Medicine

Background:

  • Idiopathic Hypogonadotropic hypogonadism (IHH) presents with variable phenotypes and is associated with various genetic factors.
  • Understanding the genetic underpinnings of IHH is crucial for diagnosis and treatment.

Observation:

  • A 20-year-old male with IHH symptoms including lack of secondary sexual characteristics, micropenis, and hyposmia.
  • Clinical presentation also included gynaecomastia, bilateral horizontal nystagmus, and a high arched palate.
  • Hormonal analysis revealed low gonadotropin and testosterone levels, with a notable LH rise post-stimulation.

Findings:

  • Karyotype analysis identified a homologous Robertsonian translocation of chromosome 13, indicating mosaic trisomy 13.
  • The patient's presentation aligns with classical IHH, with the exception of the LH response to stimulation.
  • Distinct features of Patau syndrome, typically associated with trisomy 13, were absent.

Implications:

  • This case represents the first described association between IHH and mosaic trisomy 13.
  • A potential causal link between novel mutations on chromosome 13 and the observed IHH phenotype warrants further investigation.
  • The findings expand the known genetic landscape of IHH and suggest chromosome 13 as a potential region of interest.