ArticleRevista medica del Instituto Mexicano del Seguro Social2025
[Ring chromosome 21 syndrome: report of 2 cases].
Article in Revista medica del Instituto Mexicano del Seguro Social, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: When a chromosome undergoes 2 distal breaks and the broken ends join together, they form a ring chromosome. Ring 21 syndrome is described with a phenotype with minor dysmorphisms, thrombocytopenia, psychomotor and language delay. The objective of this work is to display 2 cases of male patients with ring chromosome 21. Clinical cases: The first case was a 5-year-old male patient, with psychomotor and language delay. Broad forehead with prominent metopic suture, bilateral epicanthic fold, hypotelorism, left esotropia, low-set asymmetrical pinnae, micrognathia, lower extremities with deep plantar folds. Karyotype 46,XY,r(21)(p11.2q21)[25]. The second case was an 8-year-old male patient with psychomotor and language delay. Skull with flattened occiput, triangular facies, midfacial flattening, palpebral fissures directed downwards, bilateral epicanthic fold, low-set and asymmetrical pinnae, micrognathia, prominent asymmetrical thorax on the right side, hands with irregular palmar folds. Karyotype: 46,XY,r(21)(p11q22)[25]. Conclusion: Craniofacial dysmorphisms with psychomotor and language delay were the most relevant clinical data in both cases.
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