A child with a ring G chromosome (46,XX, Gr).
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چکیده
منابع مشابه
A child with a ring G chromosome (46,XX, Gr).
The patient was first seen at the age of 4 years 2 months because of persistent vomiting and failure to thrive. She was born in July 1965 at 38 weeks gestation after an uncomplicated pregnancy and a normal delivery; the birthweight was 2818 g. She was the eldest of four sibs of unrelated healthy parents aged 24 (father) and 22 years (mother) at the time of her birth. The mother had no known mis...
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 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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autism is a complex neuropsychiatric disorder that manifests in early childhood. although the etiology is unknown yet but, new hypothesis focused on identifying the key genes related to autism may elucidate its etiology. the main objective of the present study was to verify the value of karyotyping in autistic children and identifying association between chromosome abnormalities and autism.we e...
متن کاملDe novo ring chromosome 6 in a child with multiple congenital anomalies.
Ring chromosome 6, especially if it is de novo, is a rare occurrence. The phenotype of patients with ring chromosome 6 can be highly variable ranging from almost normal to severe malformations and mental retardation. The size and structure of the ring chromosome as well as the level of mosaicism are important factors in determining the clinical phenotype. Here we report an eight month-old child...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1971
ISSN: 1468-6244
DOI: 10.1136/jmg.8.2.231