Five new subjects with ring chromosome 22
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 کاملAtypical teratoid rhabdoid brain tumor in an infant with ring chromosome 22
Reports of constitutional ring chromosome 22, r(22) are rare. Individuals with r(22) present similar features as those with the 22q13 deletion syndrome. The instability in the ring chromosome contributes to the development of variable phenotypes. Central nervous system (CNS) atypical teratoid rhabdoid tumors (ATRTs) are rare, highly malignant tumors, primarily occurring in young children below ...
متن کاملMetachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22.
Received 15 March 1995 Revised version accepted for publication 24 May 1995 Abstract Metachromatic leucodystrophy (MLD) is an autosomal recessive lysosomal storage disease resulting from a severe deficiency of arylsulphatase A. The arylsulphatase A gene is located on chromosome 22 at q13.3. An MLD patient is described who carries a common splicing mutation ("I" allele) and a de novo ring 22 del...
متن کاملSNP Microarray Characterization and Genotype-Phenotype Analysis in a Patient with a Ring Chromosome 22
Ring chromosome 22 is a rare cytogenetic anomaly. The aim of this study was to present a case carrying ring chromosome 22 in a 9-year-old Chinese girl with long face, thick eyebrows, large and low-set ears, mental retardation, severe speech delay, autistic disorders and talipes equinovarus (TEV). A chromosome analysis of the proband revealed a de novo 46,XX,r(22)(p13;q13) karyotype and the dele...
متن کاملHuman chromosome 22.
The acrocentric chromosome 22, one of the shortest human chromosomes, carries about 52 000 kb of DNA. The short arm is made up essentially of heterochromatin and, as in other acrocentric chromosomes, it contains ribosomal RNA genes. Ten identified genes have been assigned to the long arm, of which four have already been cloned and documented (the cluster of lambda immunoglobulin genes, myoglobi...
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ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2003
ISSN: 0009-9163
DOI: 10.1034/j.1399-0004.2003.00064.x