Document Type : Case Report
Authors
1
department of molecular pathology, Children s medical center , Tehran university of medical science , Tehran, Iran
2
Tehran University of Medical Sciences
3
Children’s Medical Center, School of Medicine, Tehran University of Medical science, Tehran, Iran
4
3. Molecular Pathology and Cytogenetic Division, Pathology Department, Children’s Medical Center, Tehran University of Medical science, Tehran, Iran
5
4. Laboratory Assistant, Cytogenetic Division, Pathology Department, Children’s Medical Center, Tehran University of Medical science, Tehran, Iran
10.22038/ijn.2026.81696.2573
Abstract
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 1/58000 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.
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 cousin). The patient had a history of IUGR, which was a product of normal delivery at 39 weeks of gestation. At presentation, hypotonia, microcephaly, micrognathia, low-set ears, bilateral palmar single transverse crease (simian crease), broad nasal bridge, and thin lips were observed. 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.
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