Hepatoblastoma in a mosaic trisomy 18 child with hemihypertrophy
نویسندگان
چکیده
منابع مشابه
Hepatoblastoma associated with congenital hemihypertrophy.
Congenital hemihypertrophy is an uncommon condition with a reported incidence of 1 in 86,000 live births(l). There is a well documented association of hemihypertrophy with a number of malignant and non-malignant intra-abdominal masses including Wilms' tumor and adrenal cortical neoplasia(2). However, association of hemihypertrophy with hepatoblastoma is an uncommon condition and only two such c...
متن کاملMosaic Trisomy 18 in a Five-Month-Old Infant
Individuals with mosaic trisomy 18, only approximately 5% of all trisomy 18 cases, carry both a trisomy 18 and an euploid cell line. Their clinical findings are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome. A five-month-old daughter of a 38-year-old mother, with vomiting and feeding problems, was referred to our department. She was undernourished ...
متن کاملMultifocal 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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A 3.3 year old girl with Prader-Willi syndrome (PWS) and mosaicism for two aneuploidies, 47,XXX and 47,XX,+15, is presented. The triplo-X cell line was found in white blood cells and fibroblasts, the trisomy 15 cell line in 50% of the fibroblasts. Using methylation studies of the PWS critical region and by polymorphic microsatellite analysis, the existence of uniparental maternal heterodisomy f...
متن کاملNormal psychomotor development in a child with mosaic trisomy and pericentric inversion of chromosome 9.
A female infant with trisomy 9 in 58% of her cells is reported. Multiple congenital malformations were present, but she had normal psychomotor development. A pericentric inversion involving a portion of the centromeric heterochromatin of chromosome 9 was identified in the patient and her mother. This variant chromosome 9 was present in duplicate in the trisomic line. Since similar variants of 9...
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ژورنال
عنوان ژورنال: BMJ Case Reports
سال: 2016
ISSN: 1757-790X
DOI: 10.1136/bcr-2015-211380