Prenatal diagnosis of a non-fluorescent Y chromosome as characterized by FISH-technique
نویسندگان
چکیده
منابع مشابه
Prenatal 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 کاملCharacterisation of a satellited non-fluorescent Y chromosome (Y[nfqs]) by FISH.
A fetus was prenatally diagnosed as having a Y(nfqs) chromosome which was inherited from the father. With the QFQ technique, the Yqh was observed to be nonfluorescent and contained cytological satellites which were attached to the terminal long arm. The satellites were positively stained by the Ag-NOR technique suggesting that the NORs were active. A battery of DNA probes was used to characteri...
متن کاملX chromosome dosage by quantitative fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies.
During the past few years, rapid prenatal diagnosis of chromosome aneuploidies has been successfully achieved by quantitative fluorescent PCR (QF-PCR) amplification of chromosome-specific small tandem repeats (STR). This approach has proven to be very useful in clinical settings, since it allows the detection of major numerical disorders in a few hours after sampling. For the detection of Turne...
متن کاملDiagnosis of Sex Chromosome Disorders and Prenatal Diagnosis of Down Syndrome using Interphase Fluorescent In-Situ Hyperidization Technique.
BACKGROUND Thousands of infants are born each year with chromosomal abnormalities that severely impact physical and mental development. Among common genetic disorders are Down syndrome (trisomy 21) and sex chromosomal disorders. OBJECTIVES Evaluation of guidelines used for prenatal diagnosis of Down syndrome (DS) as well as sex chromosomal disorders including interphase Fluorescent In Situ Hy...
متن کاملEvaluation of Discontinues Puresperm Gradient in Separation of X And Y Bearing Human Spermatozoa by Fluorescent in Situ Hybridization (FISH)
Introduction: To evaluate the 8 layer discontinues puresperm gradient in separation of human spermatozoa according to sex chromosomes by fluorescent in situ hybridization (FISH). Material and Methods: This study was carried out on three patient referring to Royan fertility and infertility center. Semen analysis was assessed according to WHO criteria. Each sample was divided into two aliquots, ...
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: Genetics in Medicine
سال: 1999
ISSN: 1098-3600,1530-0366
DOI: 10.1097/00125817-199901000-00114