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Ring chromosome 6: A case report and literature review
O Gonzales1, S Cano2, M Perez2
1Maternal and Fetal Medicine Service Department of Obstetrics and Perinatology, Instituto Nacional Materno Perinatal, Lima, Perú.
Insights
Ring chromosome 6 is a rare genetic disorder causing fetal growth restriction and severe health issues. This case highlights the high risk of neonatal mortality associated with this condition.
Area of Science:
- Genetics
- Clinical Medicine
- Developmental Biology
Background:
- Ring chromosome 6 is a rare structural anomaly.
- It presents with variable phenotypes including growth restriction, congenital malformations, and neurological impairment.
Purpose of the Study:
- To present a case of a newborn with ring chromosome 6.
- To emphasize the associated neonatal morbidity and mortality.
Main Methods:
- Karyotype analysis was performed on a newborn female with prenatal diagnosis of fetal growth restriction and CNS malformations.
- Clinical features were documented at birth.
Main Results:
- The karyotype revealed 46,XX,r(6)(p25q27).
- The infant exhibited dysmorphic facies, corneal opacity, hypotonia, and a congenital heart defect.
- The infant died at 18 days of life due to respiratory complications.
Conclusions:
- Ring chromosome 6 is associated with significant neonatal morbidity and mortality.
- Prenatal ultrasound, cytogenetic evaluation, and genetic counseling are crucial for diagnosis and reproductive counseling.
Abstract:
Ring chromosome 6 is a rare structural chromosomal anomaly with a variable phenotype that includes growth restriction, congenital malformations, and neurological impairment. We present a term newborn female with a prenatal history of fetal growth restriction (FGR) and central nervous system malformations. At birth, she exhibited dysmorphic facies, bilateral corneal opacity, hypotonia, and a congenital heart defect. Cytogenetic analysis revealed a karyotype of 46,XX,r(6)(p25q27)[27]. The infant died on day 18 days of life due to a respiratory complication. Conclusions: Ring chromosome 6 is associated with high neonatal morbidity and mortality. Comprehensive prenatal ultrasound, cytogenetic evaluation, and multidisciplinary genetic counseling are essential for accurate diagnosis and informed reproductive counseling.
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