Live-Born Trisomy 22: Patient Report and Review
نویسندگان
چکیده
منابع مشابه
Live-born trisomy 22: patient report and review.
Trisomy 22 is a common trisomy in spontaneous abortions. In contrast, live-born trisomy 22 is rarely seen due to severe organ malformations associated with this condition. Here, we report on a male infant with complete, non-mosaic trisomy 22 born at 35 + 5 weeks via caesarean section. Peripheral blood lymphocytes and fibroblasts showed an additional chromosome 22 in all metaphases analyzed (47,...
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Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated with early spontaneous abortion. We report a case of a 17-month-old girl with abnormal skin pigmentation, delayed development, facial dysmorphism,...
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 کاملTrisomy 22 and intersex.
Complete trisomy 22, with or without mosaicism, has been reported as a distinct syndrome. In this report an infant is described who was externally male but with female rudimentary internal organs and whose karyotype was 47,XX+22.
متن کاملTrisomy 22 mosaicism.
A child with many symptoms of trisomy 22 syndrome is described. The child showed a 46,XY/47,XY,+22 chromosome constitution. This is the first reported case of a trisome 22 phenotype with such a mosaic karyotype.
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ژورنال
عنوان ژورنال: Molecular Syndromology
سال: 2012
ISSN: 1661-8777,1661-8769
DOI: 10.1159/000346189