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This study describes a male infant diagnosed with total monosomy 21, a rare genetic condition. The infant presented with multiple congenital anomalies and growth retardation, despite normal parental genetics.
Area of Science:
- Genetics
- Human Biology
- Pediatrics
Background:
- Monosomy 21 is a rare chromosomal abnormality with limited documented cases.
- Understanding the phenotypic spectrum of chromosomal disorders is crucial for diagnosis and management.
Purpose of the Study:
- To report a case of total monosomy 21 in a male infant.
- To detail the clinical presentation and genetic findings associated with this condition.
Main Methods:
- Karyotyping using Q-, G-, and R-banding techniques.
- Clinical examination and phenotypic assessment of the infant.
Main Results:
- The infant exhibited total monosomy 21.
- Key symptoms included hypertonia, micrognathia, microphthalmus, imperforate anus, ambiguous genitalia, thumb and finger abnormalities, clubfoot, and growth retardation.
- Both parents were phenotypically and karyotypically normal.
Conclusions:
- This case expands the known clinical spectrum of total monosomy 21.
- The findings highlight the importance of comprehensive genetic analysis in infants with multiple congenital anomalies.
Abstract:
A male infant with total monosomy 21 identified by Q-, G- and R-banding is described. His main symptoms are hypertonia, micrognathia, microphthalmus, imperforate anus, ambiguous external genitalia, floating and malopposed thumbs, overlying fingers, right clubfoot and growth retardation. Both parents are phenotypically as well as karotypically normal.