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[7p-deletion syndrome]
G K Hinkel1, E Tolkendorf, J Bergan
1Abteilung, Klinische Genetik der Medizinischen Akademie Dresden, DDR.
Insights
Two infants with deletions in chromosome 7p13 showed similar dysmorphic features and congenital defects. These included plagiocephaly, bone defects, heart issues, and significant developmental delays, indicating a potential 7p deletion syndrome.
Area of Science:
- Genetics
- Pediatrics
- Clinical Medicine
Background:
- Chromosome 7p deletions are rare genetic disorders.
- These deletions can lead to a range of congenital anomalies and developmental issues.
Abstract:
A similar pattern of dysmorphic features and congenital malformations was found in two infants, one with a larger terminal deletion of 7p13-pter and the other with a smaller interstitial deletion of 7p13-p15. The more prominent features of the syndrome include plagioturricephaly (which is caused by premature asymmetric closure of the frontal and coronal sutures), osseous defects of the parietal bones, short fingers, proximally implanted thumbs (in both), microphthalmia, congenital heart defect, and hydronephrosis (one). In addition, both patients revealed intrauterine and postnatal growth retardation and pronounced mental deficits.