[Ring chromosome 18 46,XY,r(18)].
Authors report a ring chromosome 18 (18 r) in a four year old boy, with low birth weight, retarded growth and development, microcephaly and plagiocephaly, horizontal nystagmus, ambiguous genitalia, clinodactyly of the fifth finger, distal axial triradius, whorls pattern in 8 fingers in dermatoglyphic. Serum IgA is lower than 3 mg/dl. Parents karyotype is normal.
D002675:Child, Preschool; D002869:Chromosome Aberrations; D002887:Chromosomes, Human, Pair 18; D006801:Humans; D008297:Male; D010641:Phenotype; D012303:Ring Chromosomes
Cromosoma 18 en anillo 46,XY,r(18).