Ring chromosome 11 [46,XX,r(11) (p15q25)] associated with clinical features of the 11q- syndrome.
A 2-year-old girl with a ring of chromosome 11[46,XX,r(11)(p15q25)] was reported. Her clinical features included growth and psychomotor retardation, microbrachycephaly, hypertelorism, strabismus externus, short nose, low nasal bridge, low-set ears, microretrognathism, short neck, small opening of vagina with large clitoris, deformity of nails, café-au-lait spot of the skin, general hirsutism, congenital heart disease, generalized convulsions, and pancytopenia. Most of these features are those characteristic of the 11q- syndrome. The fact that the patients with the deletion distal from q22 (reported cases) to q25 (our case) had a common phenotype suggests that the loss of the q25 leads to qter segment is mainly responsible for the characteristic clinical features of the 11q- syndrome.
D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans