De novo isochromosome 18p in a female dysmorphic child
نویسندگان
چکیده
منابع مشابه
A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome.
Monosomy 18p syndrome is a rare chromosomal disorder with varying phenotypic and clinical manifestations. Dysmorphism, growth delay, delayed speech and mental retardation are a few of the commonest features observed. The cytogenetic findings also vary and may comprise a pure deletion of the entire 18p arm or a deletion of a part of the 18p arm, if involved in a translocation with other chromoso...
متن کاملA rare chromosomal disorder - isochromosome 18p syndrome.
BACKGROUND Tetrasomy 18p is a very rare chromosomal disorder and is the result of a spontaneous mutation early in embryonic development in most of the cases. This condition is characterised by the presence of a supernumerary 18p isochromosome (i(18p)) in all or some cells of the affected individual. It has a prevalence of 1/180000 live births and affects both genders equally. MATERIALS AND ME...
متن کاملTetrasomy 18p: case report and review of literature
Tetrasomy 18p syndrome (Online Mendelian Inheritance in Man 614290) is a very rare chromosomal disorder that is caused by the presence of isochromosome 18p, which is a supernumerary marker composed of two copies of the p arm of chromosome 18. Most tetrasomy 18p cases are de novo cases; however, familial cases have also been reported. It is characterized mainly by developmental delays, cognitive...
متن کاملA de novo Deletion of Chromosome 18p With Persistent Limb Tremor and Difficulty Speaking: A Case Report
The common causes of 18p deletion syndrome are spontaneous errors in the chromosomal structure in the early stages of human embryonic development. In this study, a 29-year-old girl was introduced with the features of deletion of chromosome 18. In addition, GTG banding karyotype revealed that this case had a deletion involving the short arm of chromosome 18. In comparison with the usual phenotyp...
متن کاملCo-occurrence of mosaic supernumerary isochromosome 18p and intermittent 2q13 deletions in a child with multiple congenital anomalies.
The present study deals with karyotpye-phenotype correlations in a six month old child with multiple congenital abnormalities. Cytogenetic analysis revealed mosaicism of a small metacentric supernumerary marker chromosome with a karyotype mos 47,XY+mar[34]/46,XY[31]. Cytogenetic microarray result showed three copies of chromosome 18p (15,400 kb in size). Moreover, 255 kbp intermittent deletion ...
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ژورنال
عنوان ژورنال: Journal of Applied Genetics
سال: 2006
ISSN: 1234-1983,2190-3883
DOI: 10.1007/bf03194651