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  • Title: De novo direct duplication 7p (p11.2-->pter) in an Arab child with MCA/MR syndrome: trisomy 7p a delineated syndrome?
    Author: Redha MA, Krishna Murthy DS, al-Awadi SA, al-Sulaiman IS, Sabry MA, el-Bahey SA, Farag TI.
    Journal: Ann Genet; 1996; 39(1):5-9. PubMed ID: 9297445.
    Abstract:
    A 3-year-6-month old Lebanese female child with multiple congenital anomalies including, facial dysmorphism, prominent low set ears, micrognathia, anti-mongoloid palpebral fissures and psychomotor retardation was investigated. Her karyotype showed de novo 46, XX, dir dup (7)(p11.2-->pter). The phenotypic manifestations in dir dup (7p) cases are briefly reviewed. Our observations in combination with other similar cases suggest that 7p trisomy due to dir dup (7p) can be regarded as a defined chromosome syndrome.
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