Prenatal diagnosis of ring chromosome 13: a rare chromosomal aberration
نویسندگان
چکیده
منابع مشابه
Prenatal Diagnosis of Chromosome Abnormalities: A 13-Year Institution Experience.
OBJECTIVE To analyze trends in screening and invasive prenatal diagnosis of chromosome abnormalities (CA) over a 13-year period and correlate them to changes in the national prenatal screening policy. METHODS We retrospectively reviewed Down syndrome (DS) screening tests and fetal karyotypes obtained by prenatal invasive testing (IT) in our fetal medicine unit between January 1999 and Decembe...
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UNLABELLED Ring chromosome aberration are rare abnormality potentially involving any chromosome in patients diagnosing in Oncology. The present review and case study has focused on the ring chromosome associated with oncology malignancies. MATERIAL AND METHODS An electronic peer review article search was performed systematically to obtain relevant literature with the CINAHL, Google scholar, a...
متن کاملMolecular and Cytogenetic Characterization of a Fetus with Mosaic Ring Chromosome 13: A Very Rare Case
The major mechanism for ring chromosome formation is thought to result from breakage and reunion at the breakpoints on the long and short arms of a chromosome. This fusion event can produce terminal arm inversions, deletions, and duplications that determine the resulting phenotype.[1] Ring chromosome 13 is relatively uncommon, with an estimated incidence of 1/58,000 live births. Clinical severi...
متن کاملPrenatal Diagnosis of a Fetus with Ring Chromosomal 15 by Two- and Three-Dimensional Ultrasonography
We report on a prenatal diagnosis of ring chromosome 15 in a fetus with left congenital diaphragmatic hernia (CDH) and severe intrauterine growth restriction (IUGR). A 31-year-old woman, gravida 2 para 1, was referred because of increased nuchal translucency at gestational age of 13 weeks. Comprehensive fetal ultrasound examination was performed at 19 weeks revealing an early onset IUGR, left C...
متن کاملExternal quality assessment of prenatal diagnosis of a rare and subtle chromosomal structural abnormality.
PURPOSE OF THE STUDY To explore the misdiagnosis probability of subtle chromosomal structural abnormalities and find proper strategy to improve the accuracy of prenatal genetic diagnosis, we carried out a preliminary external quality assessment of prenatal detection of a rare case. PATIENTS AND METHODS Three karyograms of a rare case of cri du chat syndrome associated with t(11;22) translocat...
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ژورنال
عنوان ژورنال: Case Reports in Perinatal Medicine
سال: 2018
ISSN: 2192-8959
DOI: 10.1515/crpm-2017-0050