Related Experiment Video

Updated: Aug 14, 2026

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 24, 2011

Paternal reciprocal translocation t(11;16)(p13;q24.3) in a Silver-Russel syndrome patient

Vundinti Babu Rao1, Kerketta Lily, Korgaonkar Seema

  • 1Institute of Immunohaematology (ICMR), 13th floor, New Multistoryed Building, K.E.M. Hospital Campus, Parel, Mumbai 400 012, India.

Annales De Genetique
|December 9, 2003
PubMed

Insights

A child with Silver-Russell syndrome (SRS) had a rare reciprocal translocation between chromosomes 11 and 16. This genetic rearrangement in the father may have caused the child's SRS phenotype.

Area of Science:

  • Genetics
  • Pediatrics
  • Developmental Biology

Background:

  • Silver-Russell syndrome (SRS) is a rare genetic disorder characterized by intrauterine and postnatal growth retardation, with a variable phenotype.
  • Diagnosis typically relies on clinical features, but genetic testing is crucial for identifying underlying causes.
  • Reciprocal translocations are chromosomal abnormalities involving the exchange of segments between non-homologous chromosomes.

Observation:

  • A 7-month-old male infant presented with key SRS features: low birth weight, short stature, macrocephaly, and clinodactyly.
  • Cytogenetic analysis revealed a reciprocal translocation, t(11;16)(p13;q24.3), in the child.
  • The mother had normal chromosomal analysis, while the phenotypically normal father carried the identical translocation.

Findings:

  • Fluorescence in situ hybridization (FISH) confirmed the reciprocal translocation at the 11p13 and 16q24.3 breakpoints.
  • The identified translocation disrupts potential growth factor genes located in the breakpoint regions of chromosomes 11 and 16.
  • The father's asymptomatic carrier status suggests a complex inheritance pattern or variable expressivity of the translocation.

Implications:

  • This case highlights a novel genetic mechanism potentially underlying Silver-Russell syndrome.
  • Identifying the specific genes disrupted by the translocation is critical for understanding SRS pathogenesis.
  • Further research into parental translocation carriers and their offspring is warranted to elucidate the role of such chromosomal rearrangements in developmental disorders.

More Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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,...
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.
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
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...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...