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Related Concept Videos

Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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...
Genetic Lingo01:11

Genetic Lingo

Overview
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Lethal Alleles02:41

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...
Pedigree Analysis01:35

Pedigree Analysis

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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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Berry syndrome: a possible genetic link.

Natalie Jayaram1, Joshua Knowlton, Sanket Shah

  • 1Children's Mercy Hospital, 2401 Gillham Road, Kansas City, MO 64108, USA. njayaram@cmh.edu

Pediatric Cardiology
|July 14, 2012
PubMed
Summary

Berry syndrome is a rare heart defect combination. This case report details a neonate’s successful surgical repair and identifies a novel genetic deletion linked to congenital heart defects.

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Area of Science:

  • Pediatric Cardiology
  • Medical Genetics
  • Congenital Heart Disease

Background:

  • Berry syndrome is a rare congenital heart defect characterized by aortopulmonary window, interrupted aortic arch, intact ventricular septum, and aortic origin of the right pulmonary artery.
  • Accurate diagnosis and timely intervention are crucial for managing complex congenital heart conditions.

Observation:

  • A neonate diagnosed with Berry syndrome presented with additional findings of an aberrant right subclavian artery.
  • Diagnostic imaging included transthoracic echocardiogram and computed tomography (CT) for precise anatomical assessment.

Findings:

  • A single-stage surgical repair was successfully performed on the neonate at 7 days of age.
  • Genetic testing revealed a novel 102-kb deletion in chromosome band 9p24.2, previously unassociated with congenital heart defects.

Implications:

  • This case highlights the diagnostic accuracy of transthoracic echocardiogram and CT in Berry syndrome.
  • The identification of a new genetic deletion suggests a potential underlying genetic etiology for Berry syndrome, warranting further research into genetic factors influencing congenital heart development.