Related Experiment Video
Updated: Mar 15, 2026

06:41
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
14.4K
Bardet-Biedl syndrome in two sisters: A rare incidence
Chaitanya Varma1, Ramesh Y Bhat1, Sonia Bhatt1
1Department of Pediatrics, Kasturba Medical College, Manipal, Karnataka, India.
Journal of Pediatric Genetics
|September 15, 2016
Abstract:
Bardet-Biedl syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, polydactyly, mental retardation and hypogonadism. We present two sisters with this rare genetic condition.
Related Concept Videos
Pedigree Analysis
90.4K
Overview
90.4K
Genomic Imprinting and Inheritance
38.5K
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...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
38.5K
Meiosis II
51.4K
Meiosis II entails cell division and segregation of the sister chromatids, resulting in the production of four unique haploid gametes. The steps for meiosis II are similar to mitosis, except that meiosis II occurs in haploid cells, whereas mitosis occurs in diploid cells.
The timing and cell division patterns of meiosis differ between males and females. In male meiosis, the centrosomes are part of the formation of the meiotic spindle. However, in oocytes, including that of humans, Drosophila,...
The timing and cell division patterns of meiosis differ between males and females. In male meiosis, the centrosomes are part of the formation of the meiotic spindle. However, in oocytes, including that of humans, Drosophila,...
51.4K
Genetic Lingo
116.8K
Overview
116.8K
Probability Laws
44.8K
Overview
44.8K
Sex-linked Disorders
110.3K
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.
110.3K

