Immunoglobulin abnormality in a girl with a large chromosome 18.
نویسندگان
چکیده
منابع مشابه
Ring 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...
متن کاملThai girl with ring chromosome 18 (46XX, r18).
Chromosomal anomalies occur in 0.4% of live births. Ring chromosomes have been found for all human chromosomes and when it is replacing a normal chromosome, it results as a partial monosomy. The phenotype often overlaps that seen in comparable deletion syndromes of the same chromosomes. In the present report the authors describe the clinical manifestations of a girl with ring chromosome 18 (46X...
متن کاملAbnormalities of chromosome 18 in a girl with mental retardation and autistic disorder.
Structural autosome defects have rarely been described in autism. In this report, the authors describe the association of autism and mental retardation in a girl with mosaicism for a duplication of the long arm of chromosome 18 and a deletion of the short arm of chromosome 18.
متن کاملA fatal congenital defect associated with a unique chromosome abnormality.
Case Report Maternal History. The father and mother were both aged 39 and were first cousins. There was no maternal history of radiation. This was the seventh pregnancy. She had had a previous stillbirth, but all babies with the exception of the present had been born at home. The 5 children, aged from 3 to i6 years, were alive and well. A normal live child was born to the parents I9 months afte...
متن کاملSex chromosome abnormality in a patient with transsexualism.
Transsexualism, defined as the wish to change anatomical sex (Benjamin, 1954), is a psychosexual disorder usually not associated with physical abnormalities (Randell, 1970) or abnormality of the sex chromosomes (Money, 1963). In males with Klinefelter's syndrome, where there is an additional X chromosome, cases have been described with coincidental transsexualism (Money, 1963) and transvestism ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1972
ISSN: 1468-6244
DOI: 10.1136/jmg.9.3.360