Some clinical and cytogenetic observations on a ring chromosome 13 (p11 q34).
A girl of 9-10/12 years of age with 46,XX,r(13)(p11q34) karyotypes was studied. She presented some clinical and radiological features, such as pectus excavatum, scalp alopecic area, 12th rib agenesis, hypoplastic pelvis, small gluteal pits and hypoplasia of the external genitalia in a female, which have never been previously described in other cases with ring 13 chromosomes. Cytogenetically, in vivo and in vitro viability of complete monosomic and partially trisomic and tetrasomic cells was found. The presence of nucleolus organizer regions and association of the ring 13 with other acrocentrics question the exclusivity of these attributes to acrocentrics p12.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008831:Microcephaly / Q000235:genetics; D009030:Mosaicism; D014034:Toes / Q000002:abnormalities