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Trisomy-D in a cyclops with cardiovascular defects
Acta Obstetricia Et Gynecologica Scandinavica
|January 1, 1976
Insights
This case report details a female infant with cyclopia and trisomy-D, alongside cardiovascular defects. Literature review suggests two main causes for cyclopia: trisomy-D and other genetic or non-genetic factors.
Area of Science:
- Genetics
- Developmental Biology
- Pediatric Cardiology
Background:
- Cyclopia, a rare congenital anomaly, presents with a single midline eye.
- Understanding the etiology of cyclopia is crucial for genetic counseling and clinical management.
Observation:
- Presents a case of cyclopia in a female infant with trisomy-D (a chromosomal abnormality).
- The infant also exhibited significant cardiovascular defects.
Findings:
- The case aligns with a potential subgroup of cyclopia linked to trisomy-D.
- Literature review indicates distinct etiologic categories for cyclopia, including trisomy-D, other chromosomal aberrations, single gene mutations, and non-genetic factors.
Implications:
- This case contributes to understanding the genetic basis of cyclopia.
- Highlights the association between trisomy-D, cyclopia, and congenital heart defects.
- Suggests the need for comprehensive genetic and cardiac evaluations in infants with cyclopia.
Abstract:
A case report of cyclops with trisomy-D in a female infant, associated with cardiovascular defects is presented. A survey of the literature pertaining to other reported cases of cyclopia is presented to establish the probablity of the existence of at least two distinct etiologic groups of cyclopia--those associated with trisomy-D and those associated with other chromosomal aberrations, single gene mutations, or non-genetic factors.