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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.
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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.
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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
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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.
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Updated: Mar 24, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Novel Compound Heterozygous CFAP53 Variants in a Fetus With Situs Inversus Totalis: A Case Report.

Stylianos Lagios1, Andreas E Spathi1, Vassilis Papanikolaou1

  • 1Department of Genetics, Alexandra General Hospital, Athens, GRC.

Cureus
|March 23, 2026
PubMed
Summary

Novel compound heterozygous CFAP53 variants were identified in a fetus with heterotaxy, impacting left-right symmetry. Prenatal whole exome sequencing (WES) is crucial for diagnosing fetal laterality defects and informing genetic counseling.

Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Diagnostics

Background:

  • Heterotaxy encompasses morphological defects impacting the body's left-right asymmetry.
  • Laterality defects in fetuses can arise from various genetic and developmental factors.
Keywords:
array cghcfap53conventional karyotypingheterotaxysitus inversuswhole exome sequencing

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