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Related Concept Videos

Pedigree Analysis01:35

Pedigree Analysis

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Pedigree Analysis01:35

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Trihybrid Crosses02:27

Trihybrid Crosses

Trihybrid Crosses
Some of Mendel’s crosses examined three pairs of contrasting characteristics. Such a cross is called a trihybrid cross. A trihybrid cross is a combination of three individual monohybrid crosses. For example, plant height (tall vs. short), seed shape (round vs. wrinkled), and seed color (yellow vs. green).
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Incomplete Dominance01:43

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Pleiotropy01:33

Pleiotropy

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,...

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Tuberous sclerosis : A three-generation pedigree.

S Biswas1, S K Ghosh, S Pal

  • 1Departments of Dermatology and Psychiatry, R G Kar Medical College, 1 Belgachia Road, Calcutta -4, and Department of Pathology, NRS Medical College, Calcutta, India, .

Indian Journal of Dermatology, Venereology and Leprology
|October 19, 2010
PubMed
Summary
This summary is machine-generated.

Tuberous sclerosis, a genetic disorder, affects multiple generations. Clinical symptoms in affected family members range from skin lesions to severe neurological issues like epilepsy and intellectual disability.

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Area of Science:

  • Genetics
  • Neurology
  • Dermatology

Background:

  • Tuberous sclerosis is a genetic disorder affecting multiple organ systems.
  • Familial inheritance patterns are crucial for understanding disease progression.

Purpose of the Study:

  • To report a case of tuberous sclerosis spanning three generations.
  • To document the variable clinical manifestations within an affected family.

Main Methods:

  • Case report detailing a three-generation family.
  • Clinical examination and assessment of affected individuals.

Main Results:

  • Tuberous sclerosis observed in three consecutive generations.
  • High prevalence within the family, with only 2 out of 12 members unaffected.
  • Clinical variability ranged from isolated adenoma sebaceum to severe epilepsy and mental retardation.

Conclusions:

  • Tuberous sclerosis demonstrates significant clinical heterogeneity.
  • Autosomal dominant inheritance is suggested by the family pedigree.
  • Early diagnosis and genetic counseling are vital for affected families.