Related Experiment Video

Updated: Aug 5, 2026

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 24, 2011

Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9

Jennifer J D Morrissette1, Ayala Laufer-Cahana, Livija Medne

  • 1Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

American Journal of Medical Genetics. Part A
|November 11, 2003
PubMed

Insights

This study details a patient with hypoplastic left heart and joint dislocations, identified with trisomy 9p and partial 9q duplication. Genetic analysis revealed a complex derivative chromosome 9.

Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Hypoplastic left heart (HLH) is a severe congenital heart defect.
  • Genetic abnormalities can lead to complex congenital conditions.
  • Accurate karyotyping is crucial for diagnosing developmental disorders.

Observation:

  • A patient presented with HLH, hip and knee dislocations, and minor dysmorphic features.
  • Karyotyping revealed an abnormal chromosome 9: 46,((, dic(or tri?)(9)(9pter --> 9q34::9q21 --> 9pter).
  • FISH analysis indicated trisomy for 9p and a portion of 9q, with three pericentromeric regions on the derivative chromosome.

Findings:

  • The derivative chromosome (der(9)) involved an inverted duplication of the 9p arm and proximal 9q arm.
  • FISH confirmed the presence of extra genetic material from chromosome 9.
  • Minimal deletion at the 9q subtelomere was suggested.

Implications:

  • This case highlights the phenotypic variability associated with chromosomal abnormalities.
  • Understanding complex rearrangements like der(9) is vital for genetic counseling.
  • Further research can elucidate genotype-phenotype correlations in trisomy 9p/9q duplications.

More Related Videos

Implantation of Total Artificial Heart in Congenital Heart Disease07:27

Implantation of Total Artificial Heart in Congenital Heart Disease

Published on: July 18, 2014

Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome09:39

Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Published on: December 4, 2021

Related Concept Videos

Meiosis I01:49

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...