Chromosomal uniparental disomy 16 and fetal intrauterine growth restriction
نویسندگان
چکیده
منابع مشابه
Genome-wide detection of uniparental disomy in a fetus with intrauterine growth restriction using genotyping microarrays.
OBJECTIVE To present the clinical and molecular features of a fetus with confined trisomy 16 mosaicism with maternal uniparental disomy (UPD), using various prenatal diagnostic techniques. MATERIALS AND METHODS Chromosomal karyotyping was performed on samples of chorionic villi, amniotic fluid cells, amniotic membrane, umbilical cord, fetal skin, and placenta from a fetus with elevated nuchal...
متن کاملExtrinsic Factors Influencing Fetal Deformations and Intrauterine Growth Restriction
The causes of intrauterine growth restriction (IUGR) are multifactorial with both intrinsic and extrinsic influences. While many studies focus on the intrinsic pathological causes, the possible long-term consequences resulting from extrinsic intrauterine physiological constraints merit additional consideration and further investigation. Infants with IUGR can exhibit early symmetric or late asym...
متن کاملUniparental disomy and prenatal phenotype
RATIONALE Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. PATIENT CONCERNS We report prenatal phenotypes of 2 rare cases of UPD. DIAGNOSES The prenatal phenotype of case 1 included sonographic markers such as enlarg...
متن کاملReciprocal uniparental disomy in yeast.
In the diploid cells of most organisms, including humans, each chromosome is usually distinguishable from its partner homolog by multiple single-nucleotide polymorphisms. One common type of genetic alteration observed in tumor cells is uniparental disomy (UPD), in which a pair of homologous chromosomes are derived from a single parent, resulting in loss of heterozygosity for all single-nucleoti...
متن کاملEvaluation of Abdominal Fetal Electrocardiography in Early Intrauterine Growth Restriction
Objectives: This descriptive study was performed to evaluate the capability of a non-invasive transabdominal electrocardiographic system to extract clear fetal electrocardiographic (FECG) measurements from intrauterine growth restricted (IUGR) fetuses and to assess whether abdominal FECG parameters can be developed as markers for evaluating the fetal cardiac status in IUGR. Methods: Transabdomi...
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: European Journal of Obstetrics & Gynecology and Reproductive Biology
سال: 2017
ISSN: 0301-2115
DOI: 10.1016/j.ejogrb.2016.12.019