Keratoconus associated with chromosome 13 ring abnormality
نویسندگان
چکیده
منابع مشابه
Ring 13 chromosome with normal haptoglobin inheritance.
The combination of cytogenetic, biochemical, and family studies for investigation of patients who have partially deleted chromosomes provides a potential opportunity to learn what genes were present on the fragment deleted from the chromosome. In addition, the genes on its remaining homologue can be studied in their hemizygous state. The ring chromosome, an example of a partially deleted chromo...
متن کاملRing Chromosome 13 and Ambiguous Genitalia
Ambiguous genitalia, known to be associated with sex chromosome disorders, may also be seen with autosomal chromosome anomalies. Herein, we report a case with ambiguous genitalia and ring chromosome 13. Ring chromosome 13 is a rare genetic anomaly in which the loss of genetic material determines the clinical spectrum.
متن کاملTrisomy 13: a new recurring chromosome abnormality in acute leukemia.
A new recurring chromosome abnormality was identified in 8 of 621 consecutive successfully karyotyped adults with de novo acute leukemia. These eight patients had trisomy 13 as the sole cytogenetic abnormality. On central morphologic review, five cases were classified as subtypes of acute myeloid leukemia, one as acute mixed lymphoid and myeloid leukemia, one as acute lymphoid leukemia, and one...
متن کاملRing chromosome 13 in an infant with ambiguous genitalia.
Ring chromosome is a rare chromosomal abnormality. We report a case of ring chromosome 13 associated with ambiguous genitalia. Karyotype is the important investigation in the evaluation of a case with ambiguous genitalia and chromosomal analysis should not be limited to only presence of X and Y chromosomes.
متن کاملSevere Anomalies Associated With Ring Chromosome
Seven previous cases of ring chromosome 7 (r(7)) have been reported in association with minor anomalies with and without mental retardation [Zackai and Breg, 1973; Nakano and Miyamoto, 1977; DeLozier et al., 1982; Barros et al., 1986; Kohyama et al., 1988; Koiffmann et al., 19901. All of the reported patients had evidence of mosaicism with the r(7) line predominating and low frequencies of doub...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 2000
ISSN: 0007-1161
DOI: 10.1136/bjo.84.9.1075d