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[Monosomy 7qter (author's transl)]
Insights
A terminal deletion of chromosome 7's long arm was found in a male infant. This genetic condition often presents with distinct facial features, developmental delays, and physical abnormalities, though visceral issues are rare.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Terminal deletions of the long arm of chromosome 7 (7q) are rare chromosomal abnormalities.
- These deletions can lead to a spectrum of congenital anomalies and developmental issues.
- Understanding the phenotypic spectrum is crucial for diagnosis and management.
Observation:
- A case study of a male infant with a terminal deletion of chromosome 7 is presented, observed from birth to 6 months.
- Review of 11 previously reported cases provides a broader clinical context.
- The patient exhibited characteristic features associated with this deletion.
Findings:
- Common features include microcephaly with brachycephaly, prominent forehead, large ears, bulbous nasal tip, overlapping toes, and genital abnormalities in males.
- Excess subcutaneous tissue was also noted.
- Delayed mental and physical development is a consistent finding in affected individuals.
Implications:
- This case contributes to the understanding of the terminal 7q deletion syndrome phenotype.
- Early identification of these features can aid in timely intervention and support.
- The relative rarity of visceral malformations suggests a focus on neurodevelopmental and physical characteristics for management.
Abstract:
A terminal deletion of the long arm of chromosome 7 is identified in a boy observed from birth to age 6 months. Eleven previously reported cases were reviewed. Eleven previously reported cases were reviewed. The most common features are microcephaly with brachycephaly, prominent forehead, large ears, a nose with bulbous tip, overlapping toes, genital abnormalities in the males and excess of subcutaneous tissue. Delayed mental and physical development is a general rule but visceral malformations seem uncommon.