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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.
American Journal of Medical Genetics
|July 1, 1988
Summary
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.