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Caudal deficiency sequence in 7q terminal deletion
C Schrander-Stumpel1, J Schrander, J P Fryns
1Department of Genetics, Academical Hospital Maastricht, State University of Limburg, The Netherlands.
Insights
A male infant presented with caudal deficiency sequence, growth retardation, and microcephaly. Genetic analysis revealed a terminal 7q deletion, suggesting chromosome aberrations can cause developmental defects.
Area of Science:
- Genetics
- Developmental Biology
- Pediatrics
Background:
- Caudal deficiency sequence (CDS) encompasses a spectrum of congenital anomalies affecting the lower spine and limbs.
- Genetic factors are implicated in the etiology of CDS, but specific chromosomal abnormalities are not fully elucidated.
Observation:
- A male infant exhibited CDS signs including growth retardation, microcephaly, dysmorphic facial features, hypospadias, and sacral agenesis.
- Neurologic bladder dysfunction was also noted in the infant.
- Karyotyping identified a terminal 7q deletion (46,XY,del(7)(pter----q32:)).
Findings:
- The terminal 7q deletion in this case is associated with a complex phenotype including CDS and other developmental anomalies.
- Review of four prior cases of terminal 7q deletion with CDS suggests a potential link between this specific chromosomal aberration and caudal malformations.
Implications:
- This case highlights the role of specific chromosomal aberrations, such as terminal 7q deletions, in causing significant developmental defects.
- Understanding these genetic underpinnings can aid in genetic counseling and risk assessment for families with affected infants.
- Further research into the genetic mechanisms of CDS may reveal novel therapeutic targets or diagnostic approaches.
Abstract:
We describe a male infant with signs of caudal deficiency sequence. In addition, he showed growth retardation, microcephaly, prominent forehead, bulbous nose tip, large dysplastic ears, hypospadia, partial sacral agenesis, and neurologic bladder dysfunction. Chromosome examination showed a terminal 7q deletion 46,XY,del(7)(pter----q32:). Four previous reported cases of 7q terminal deletion and signs of caudal deficiency are reviewed. Chromosome aberrations may, at least in some cases, be responsible for developmental defects.