Mosaic trisomy 8 syndrome
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Supernumerary ring chromosomes (SRCs) constitute a small category of the supernumerary marker chromosomes (SMCs), among which… Expand Constitutional mosaic trisomy 8 syndrome occurs in approximately 1 of 35 000 live births. Clinically, it has a variable… Expand We describe a patient with manifestations of the mosaic trisomy 8 syndrome and mosaicism for a minute marker chromosome… Expand prominent lower lip, often everted; and micrognathia. Other characteristic anomalies include clinodactyly, camptodactyly, deep… Expand A 15‐year‐old male was referred for management of scoliosis secondary to congenital vertebral anomalies. Cytogenetic analysis was… Expand We have studied 4 patients with inverted tandem duplications of parts of chromosomes, a hitherto rarely identified form of a… Expand