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Pleiotropy

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,...

Lethal Alleles

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...

X-linked Traits

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 Traits

X-linked Traits

Genetic Lingo

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Incomplete Dominance

Incomplete Dominance

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.

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Related Experiment Video

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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

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LEOPARD Syndrome.

Sudip Kumar Ghosh¹, Biswajit Majumdar, Olympia Rudra

¹R.G.Kar Medical College, Kolkata. dr_skghosh@yahoo.co.in.

Dermatology Online Journal

|December 4, 2015

Summary

LEOPARD syndrome, a rare genetic disorder, is characterized by multiple clinical features. Early diagnosis through detailed examination is crucial for managing this condition.

Area of Science:

Medical Genetics
Clinical Medicine
Dermatology

Background:

LEOPARD syndrome (LS) is an autosomal dominant disorder with variable clinical presentation.
The acronym LEOPARD describes its key features: Lentigines, Electrocardiographic abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia, Retardation of growth, and Deafness.
LS can present sporadically or with inherited mutations, affecting individuals differently.

Observation:

A patient presented with generalized lentiginosis, a primary clinical manifestation.
Further evaluation confirmed the diagnosis of LEOPARD syndrome.
This case highlights unusual presentations of LS.

Findings:

The patient's generalized lentiginosis was the initial indicator of LEOPARD syndrome.

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Comprehensive clinical assessment and diagnostic imaging were vital for accurate diagnosis.

Distinctive features were noted in this particular LEOPARD syndrome case.

Implications:

Emphasizes the significance of thorough clinical examination in patients with multiple lentigines.
Underscores the importance of diagnostic imaging in identifying LEOPARD syndrome.
Aims to improve early detection and management strategies for LEOPARD syndrome patients.