Clinical findings in an Arab boy with ring (14)(mos 46,XY,r(14)/45,XY,-14) |
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Authors: | S Portoian-Shuhaiber S Al-Awadi T I Farag T S Sundareshan H R Jindal A A Al-Rashied |
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Abstract: | A five-month male Arab child with clinical features of ring(14) is reported. He had recurrent seizures and chest infections, microcephaly, elongated face, short palpebral fissures, broad nasal bridge, long philtrum, fish-like mouth with thin lips, micrognathia, low-set ears and retinal pigmentation with yellow-white spots on the maculae. In addition brachydactyly of fingers and toes, hypoplastic scrotum and mental deterioration were present. |
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