Malformation syndrome associated with small extra chromosome

Area of Science:

• Medical Genetics
• Developmental Biology
• Pediatric Pathology

Background:

• A novel lethal malformation syndrome has been identified.
• The syndrome exhibits significant asymmetry, predominantly affecting the left side of the body.
• Midline developmental defects are also characteristic features.

Purpose of the Study:

• To describe a previously unreported lethal malformation syndrome.
• To investigate the potential genetic cause of the observed congenital anomalies.
• To explore the relationship between chromosomal abnormalities and asymmetric development.

Main Methods:

• Clinical case reporting of a single infant.
• Karyotyping of lymphocyte samples to identify chromosomal abnormalities.
• Postulation of developmental mechanisms based on observed findings.

Main Results:

• The infant presented with a severe, asymmetric malformation syndrome.
• Key midline defects included meningomyelocele, cleft lip, cleft palate, and imperforate anus.
• A small extra metacentric chromosome was detected in 60% of the infant's lymphocytes.

Conclusions:

• The extra metacentric chromosome is postulated as the causative agent of the malformation syndrome.
• The asymmetry of the condition may result from uneven distribution of aneuploid cells during early development.
• This case highlights the potential impact of chromosomal mosaicism on asymmetric fetal development.