Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis.
Ring chromosomes are rare chromosomal anomalies and usually not stable in nature. Patients carrying ring chromosome have various phenotypes depending on the degree of structural rearrangement. A 1-year-old boy, presenting with hypotonia, blepharophimosis, ptosis, a bulbous nose, mild psychomotor retardation, and epilepsy, was found to have mosaicism of chromosome ring 14 and monosomy 14. His karyotype is described as hitherto unreported mos 46, XY, r(14)(p11.2q32.31 or q32.2)[84]/45, XY,-14[10]/46, XY, dic r(14)[6]. His seizures responded well to phenobarbital. He has marked growth retardation but less serious delays in mental and motor development than those with ring 14 described in the literature.
Hou
Jia-Woei
JW
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children's Hospital, Taipei. houjw741@cgmh.org.tw
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D016569:Blepharophimosis / Q000473:pathology; D002871:Chromosome Banding; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D003937:Diagnosis, Differential; D004827:Epilepsy / Q000473:pathology*; D030342:Genetic Diseases, Inborn / Q000175:diagnosis; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007234:Infant, Premature; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D009030:Mosaicism; D012303:Ring Chromosomes