Clinical findings in an Arab boy with ring (14)(mos 46,XY,r(14)/45,XY,-14).
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002883:Chromosomes, Human, Pair 14; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male