Hepatoblastoma associated with trisomy 18

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Multifocal hepatoblastoma in a 6-month-old girl with trisomy 18: a case report

INTRODUCTION Edward's syndrome (trisomy 18) is a rare entity with a reported incidence of 1/3000 to 1/7000 births. Less than 10% of patients survive beyond the first year of life, which may influence the fact that malignant tumors are rarely reported in association with this syndrome. CASE PRESENTATION The authors report a rare case of a 6-month-old girl with trisomy 18 and multifocal hepatob...

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Aberrant melanoblast migration associated with trisomy 18 mosaicism.

A patient is reported with mental retardation, facial and body asymmetry, and hyperpigmented areas limited to the right side of the body. Cytogenetic studies revealed trisomy 18 in 50% of peripheral blood lymphocytes; fibroblast cultures from the hyperpigmented area showed pure trisomy 18, while the karyotype on the unaffected side was normal. This could be an example of the 'lines of Blaschko'...

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The trisomy 18 syndrome

The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the ...

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Edwards' Syndrome (Trisomy 18)

The Edwards' syndrome phenotype results from full, mosaic or partial trisomy 18q. Full trisomy 18 is the most common form occurring in about 94% of cases. In full trisomy every cell contains three full copies of chromosome 18. Mosaics can occur in about 5% of cases in which some cells are normal with 46 chromosomes and others have the extra chromosome. Partial trisomy 18 can (rarely) occur if a...

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Trisomy 18 in Kuwait.

BACKGROUND Trisomy 18 (Edwards' syndrome, T18) is the second most common trisomy in man. We describe 118 children with regular T18 who were ascertained clinically and cytogenetically in the Kuwait Medical Genetics Centre during 1980-1997. METHODS Ascertainment of T18 cases was performed shortly after birth. Chromosomal studies were carried out in addition to other relevant investigations. To ...

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ژورنال

عنوان ژورنال: Journal of Pediatric Surgery Case Reports

سال: 2020

ISSN: 2213-5766

DOI: 10.1016/j.epsc.2019.101342