Non-mosaic Tetrasomy Yp by Complex Isodicentric Rearrangement of the Y Chromosome: Prenatal Diagnosis with Cordocentesis in a Fetus with Abnormal Obstetric Ultrasound
نویسندگان
چکیده
منابع مشابه
Non-mosaic Tetrasomy Yp by Complex Isodicentric Rearrangement of the Y Chromosome: Prenatal Diagnosis with Cordocentesis in a Fetus with Abnormal Obstetric Ultrasound
Tetrasomy Y is a very rare event, especially when it is present in a complete form. It is determined by complex rearrangement of the Y chromosome. Clinical features include psychomotor delay, skeletal abnormalities and facial dysmorphism. We report on a case of prenatal diagnosis of non-mosaic tetrasomy Yp, performed by karyotype and fluorescence in situ hybridization (FISH) on fetal blood. The...
متن کاملPrenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities
Small supernumerary marker chromosomes (sSMC) are still a major problem in clinical cytogenetics as they cannot be identified or characterized unambiguously by conventional cytogenetics alone. On the other hand, and perhaps more importantly in prenatal settings, there is a challenging situation for counseling how to predict the risk for an abnormal phenotype, especially in cases with a de novo ...
متن کاملPrenatal diagnosis and follow up of a child with a complex chromosome rearrangement.
A case of de novo, apparently balanced, three way exchange by translocation plus a pericentric inversion is described. The karyotype is 46,XX,t(6;11)(p21;q21),t(11;21) (q21;p13),inv(6)(p21q11) and was ascertained through second trimester amniocentesis. The structural rearrangements appear balanced. The child was phenotypically normal at birth. Growth and motor development were normal until 30 m...
متن کاملPrenatal diagnosis of a de novo non-fluorescent Y chromosome.
We report a case with non-mosaic Yq-, missing the fluorescent segment, and detected as a fetus studied for advanced maternal age. The father had a Y chromosome of average size and paternity was established wih a plausibility of 97.7% by HLA and erythrocyte antigen typing. The child had a normal male antigen typing. The child had a normal male phenotype at delivery and developmental milestones w...
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: Gynecology & Obstetrics
سال: 2015
ISSN: 2161-0932
DOI: 10.4172/2161-0932.1000298