A case of partial mole associated with trisomy 13
نویسندگان
چکیده
منابع مشابه
A case of partial trisomy 13 presenting with hyperinsulinaemic hypoglycaemia.
We report on a newborn baby with partial trisomy 13 who presented with multiple dysmorphic features and hyperinsulinaemic hypoglycaemia. Cytogenetic study on peripheral blood lymphocytes showed 47,XY,+mar in all cells analysed; fluorescent in situ hybridisation showed that the marker was solely derived from chromosome 13. The final karyotype was 47,XY,+del(13)(q14q32). Milk formula through a na...
متن کاملSacrococcygeal Teratoma associated with Trisomy 13
Sacrococcygeal teratoma (SCT) is rarely associated with syndromes. We report a female newborn with a prenatal diagnosis of small sacrococcygeal teratoma and postnatally diagnosed as having trisomy 13. The sacrococcygeal teratoma was excised. It was reported as mature teratoma. The child succumbed to sepsis postoperatively.
متن کاملA case of partial 5q trisomy associated with partial 7q monosomy.
A 1-year-old girl with partial 5q trisomy and partial 7q monosomy had ocular abnormalities that included bilateral blepharoptosis and Leber's congenital amaurosis. A single bright-flash electroretinogram (dark-adapted, white stimulation) disclosed subnormal bilateral responses. Her maculas showed a reddish spot surrounded by a broad, greyish retinal zone. Cytogenetic studies disclosed deletion ...
متن کاملPartial trisomy 13 with features similar to C syndrome.
We report a case of partial trisomy 13 with trigonocephaly, upslant eyes, long smooth philtrum, polydactyly, agenesis of right kidney and mild developmental delay. In this family phenotypically normal mother had pericentric inversion of chromosome 13 and the child (proband) received recombinant 13 from the mother. Genetic counselling of the family for reproductive risks and testing siblings of ...
متن کاملA patient with Trisomy 13 mosaicism: review and case report
Complete Trisomy 13 or Patau’s Syndrome is a relatively common (1/10,000 births) and uniformly fatal chromosomal disorder. In 5% of cases not all cells are trisomic, some cells are euploid [1]. This aberration, known as Trisomy 13 Mosaicism, is not well described but may lead to a milder form of the disease. Descriptive case report and comprehensive literature search of MEDLINE database using P...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Ultrasound in Obstetrics and Gynecology
سال: 1998
ISSN: 0960-7692
DOI: 10.1046/j.1469-0705.1998.11010062.x