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Related Concept Videos

Pedigree Analysis01:35

Pedigree Analysis

Overview
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,...
X-linked Traits01:19

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”.
Sex-linked Disorders01:43

Sex-linked Disorders

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.
Incomplete Dominance01:43

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.
X-linked Traits01:19

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”.

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Related Experiment Video

Updated: Jun 29, 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

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[Tricho-rhino-phalangeal syndrome with autosomal dominant inheritance (author's transl)].

H Frisch, W Vormittag

    Zeitschrift Fur Kinderheilkunde
    |August 11, 1975
    PubMed
    Summary

    Tricho-rhino-phalangeal syndrome (TRP) is characterized by sparse hair, distinctive facial features, and finger deformities. Diagnosis is confirmed via X-ray, with genetic factors playing a role in affected families.

    Area of Science:

    • Medical Genetics
    • Dermatology
    • Skeletal Dysplasias

    Background:

    • Tricho-rhino-phalangeal syndrome (TRP) is a rare genetic disorder.
    • Key features include sparse hair, characteristic facial morphology, and brachydactyly.

    Observation:

    • A 13-year-old female presented with classical signs of TRP.
    • Multiple family members exhibited overlapping features of the syndrome.
    • Dermatoglyphic analysis was conducted on nine family members.

    Findings:

    • The syndrome involves cone-shaped invaginations in finger and toe epiphyses, leading to clinodactyly and brachydactyly.
    • Facial features and skeletal anomalies are diagnostic hallmarks.
    • Genetic predisposition is suggested by familial occurrence.

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    Implications:

    • Early diagnosis of TRP can be achieved through clinical observation and radiographic confirmation.
    • Understanding the genetic basis aids in family counseling and management.
    • Further research into dermatoglyphic patterns may offer additional diagnostic insights.