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Interstitial deletion of band q12 of chromosome 5
Clinical Genetics
|May 1, 1984
Insights
A six-month-old girl exhibits developmental delays and birth defects due to a deletion on chromosome 5 (del(5)(q11q13)). This genetic finding in a child with consanguineous parents warrants further investigation into related gene functions.
Area of Science:
- Human Genetics
- Clinical Cytogenetics
- Developmental Biology
Background:
- Genetic disorders can manifest as developmental delays and congenital anomalies.
- Karyotyping is a crucial diagnostic tool for identifying chromosomal abnormalities.
- Consanguinity in parents can increase the risk of recessive genetic disorders.
Observation:
- A six-month-old female infant presented with psychomotor retardation and multiple congenital malformations.
- Karyotype analysis revealed a deletion on chromosome 5, specifically del(5)(q11q13), in both lymphocytes and fibroblasts.
- The patient's parents were consanguineous and had normal karyotypes.
Findings:
- The specific chromosomal abnormality identified is 46,XX del(5)(q11q13).
- The deletion spans the 5q11q13 region of chromosome 5.
- Genes Arylsulphatase B and Hexosaminidase B were excluded from the deleted region 5q12.
Implications:
- This case highlights a specific chromosomal deletion associated with significant developmental and physical abnormalities.
- Further research is needed to identify the specific genes within the 5q11q13 region responsible for the observed phenotype.
- Understanding this deletion can contribute to improved genetic counseling and diagnostic strategies for similar cases.
Abstract:
A six-months-old girl is presented with psychomotor retardation and multiple congenital malformations. The karyotype done on peripheral blood lymphocytes and skin fibroblasts was found to be 46,XX del(5)( q11q13 ). The parents are consanguineous. Their karyotypes were normal. The genes for Arylsulphatase B and Hexosaminidase B are not located in band 5q12 .