Ring 13 chromosome with normal haptoglobin inheritance.
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 کاملInheritance of a ring 14 chromosome.
A family is described in which the mother, her two live offspring, and a therapeutically aborted fetus each had a ring 14 chromosomes. The two children were mentally retarded and the mother's intelligence was at the lower end of the normal range. In addition, the mother had two spontaneous abortions, one of which was shown to be chromosomally normal.
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 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 کاملRing Chromosome 18: A Case Report
Ring chromosomes are rare chromosomal disorders that usually appear to occur de novo. A ring chromosome forms when due to deletion both ends of chromosome fuse with each other. Depending on the amount of chromosomal deletion, the clinical manifestations may be different. So, ring 18 syndrome is characterized by severe mental growth retardation as well as microcephaly, brain and ocular malformat...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1971
ISSN: 1468-6244
DOI: 10.1136/jmg.8.2.222