Bilateral Palmar Single Transverse Crease in an Infant Girl with Ring Chromosome 13 and Multiple Facial Anomalies: A Case Report
نویسندگان
1 Children's Medical Center, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
2 Cytogenetic Division, Pathology Department, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
3 Gene Therapy Research Center, Digestive Diseases Research Institute, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran
4 Molecular Pathology and Cytogenetic Division, Pathology Department, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
5 Molecular and Cytogenetic Pathology, Pathology Department, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
doi
10.22038/ijn.2026.81696.2573چکیده
Background: Ring chromosome 13 is a rare cytogenetic disorder resulting from breakage and reunion of the distal ends of the chromosomal arms. The incidence of this disorder is about 1 in 58,000 live births. This syndrome usually presents with particular clinical features, including developmental delay, microcephaly, genital malformation in males, and dysmorphism, such as hypertelorism, broad nasal bridge, thin lips, up-slanting palpebral fissure, and ear anomalies. Case Report: We report a 2-month-old girl who was referred to a clinical geneticist because of growth retardation and distinctive facial features. Her parents were consanguineous (second-cousins). The patient had a history of IUGR and was the product of a normal delivery at 39 weeks of gestation. At presentation, hypotonia, microcephaly, micrognathia, low-set ears, bilateral palmar single transverse creases (simian creases), broad nasal bridge, and thin lips were observed. Conclusion: The karyotype revealed the presence of mosaic ring chromosome 13. This is the first report of a case of ring chromosome 13 with bilateral palmar single transverse creases.
