Clinical findings in an Arab boy with ring (14)(mos 46,XY,r(14)/45,XY,-14).

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.

• Authors: S Portoian-Shuhaiber, S Al-Awadi, T I Farag, T S Sundareshan, H R Jindal, A A Al-Rashied
• Journal: Annales de genetique (Ann Genet) Vol. 29 Issue 2 Pg. 122-4 ( 1986) ISSN: 0003-3995 [Print] Netherlands
• PMID: 3490208 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (genetics)
• Chromosome Aberrations
• Chromosome Disorders
• Chromosomes, Human, Pair 14
• Humans
• Infant
• Karyotyping
• Male