Hernandez A, Garcia-Cruz D, Plascencia L, Nazara Z, Rivera H, Sanchez-Corona J, Cantu J M
Ann Genet. 1979;22(4):221-4.
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.
对一名9至10/12岁、核型为46,XX,r(13)(p11q34)的女孩进行了研究。她表现出一些临床和放射学特征，如漏斗胸、头皮脱发区、第12肋发育不全、骨盆发育不良、小臀窝以及女性外生殖器发育不全，这些特征在之前其他13号环状染色体病例中从未被描述过。细胞遗传学方面，发现了完全单体、部分三体和四体细胞在体内和体外的生存能力。核仁组织区的存在以及13号环状染色体与其他近端着丝粒染色体的关联对这些特征仅存在于近端着丝粒染色体p12这一观点提出了质疑。
