Article
Partial monosomy of 10p and duplication of another chromosome in two patients.
Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2017
Ohta Sayaka, Isojima Tsuyoshi, Mizuno Yoko, Kato Motohiro, Mimaki Masakazu, Seki Masafumi, Sato Yusuke, Ogawa Seishi, Takita Junko, Kitanaka Sachiko, Oka Akira
Abstract excerpt
Partial monosomy of 10p is a rare chromosomal abnormality. Common features are hypoparathyroidism, deafness, renal anomalies, distinctive facies, and mental retardation, with phenotypic variability. We report two patients with chromosomal abnormalities identified on single-nucleotide polymorphism (SNP) array analysis. Although patient 1 had common features of monosomy10p, G-banding indicated a normal karyotype....
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