RESUMO
OBJECTIVE@#To carry out G-banded chromosomal karyotyping and chromosomal microarray analysis (CMA) for a fetus featuring multiple malformations.@*METHODS@#The fetus was found to have increased nuchal thickness, generalized edema, asymmetric lower limbs, tetralogy of Fallot, nasal bone anomaly and cleft palate. Following amniocentesis, G-band karyotyping and CMA were carried out.@*RESULTS@#The fetus had a karyotype of 47,XX,+i(12)(p10) [14]/46,XX[6]. CMA has identified a 33.9 Mb duplication at 12p13.33-p11.1, which was suggestive of tetrasomy 12p.@*CONCLUSION@#Combined chromosomal karyotyping and CMA can delineate the origin of abnormal chromosomal fragments during prenatal diagnosis. The fetus was diagnosed with Pallister-Killian syndrome.
RESUMO
p21 WAF1/CIP1 gene is known for a most important cell cycle regulator as well as its roles in apoptosis and differentiation. This review focuses on p21 WAF1/CIP1 gene functions and its association with carcinogenesis. Better understanding of the structure and function of p21 WAF1/CIP1 gene may help to comprehend molecular mechanisms of cancers and to facilitate diagnosis and treatment of malignancy.
