Minimally differentiated acute myeloid leukemia with ring/marker derived from chromosome 7 in a child with Down syndrome

Borges, Maria Luiza Rocha da Rosa; Soares-Ventura, Eliane Maria; Liehr, Thomas; Marques-Salles, Terezinha de Jesus

doi:10.1016/j.htct.2018.05.006

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2023

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“…[29][30][31] Ring chromosome 7 as a part of complex karyotypes usually correlate with malignancies, typically myelodysplastic syndrome, leukaemia, and lymphoma. 11,24,26,32,33 Ring chromosome 7 accompanied with trisomy of chromosome 8 has been reported to manifest as pediatric hepatosplenic T-cell lymphoma. [34][35][36][37] Other associated malignancies were sarcomas 38,39 and glioblastoma.…”

Section: Discussionmentioning

confidence: 99%

Bilateral Cleft Lip and Palate in Ring Chromosome 7 Syndrome: A Case Report and Review of Clinical Characteristics

Bangun

Kreshanti

Tania

et al. 2023

The Cleft Palate Craniofacial Journal

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This report presents a case of ring chromosome 7 syndrome with bilateral cleft lip and palate. A four-year-old boy presented with bilateral cleft lip and palate, microcephaly, clenched toes, cafe-au-lait spots, a history of epilepsy, and severe intellectual disability. Genetic karyotyping revealed 46 XY r(7) (p22q36). His cheiloplasty and delayed palatoplasty were successful. A review of 22 previous r(7) patients revealed that 22.7% had cleft lip and/or palate. This case demonstrates the importance of a multidisciplinary evaluation for cleft patients, particularly those with syndromic features and global developmental delay.

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