Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14
نویسندگان
چکیده
منابع مشابه
Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14
Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that include growth retardation, facial dysmorphia, hypotonia, seizures, and retinitis pigmentosa. Given that the majority of symptoms appear postnatally, few cases h...
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Carlsson, T. 2017. To Grasp the Unexpected. Information Following a Prenatal Diagnosis of Congenital Heart Defect in the Fetus. Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine 1362. 70 pp. Uppsala: Acta Universitatis Upsaliensis. ISBN 978-91-513-0050-4. The aim was to explore experiences and needs of information following a prenatal diagnosis of congenital ...
متن کاملa case of autism with ring chromosome 14.
autism is a complex neuropsychiatric disorder that manifests in early childhood. although the etiology is unknown yet but, new hypothesis focused on identifying the key genes related to autism may elucidate its etiology. the main objective of the present study was to verify the value of karyotyping in autistic children and identifying association between chromosome abnormalities and autism.we e...
متن کاملExperiences of informational needs and received information following a prenatal diagnosis of congenital heart defect
OBJECTIVE To explore the need for information and what information was actually received following prenatal diagnosis of a congenital heart defect, in a country where termination of pregnancy beyond 22 weeks of gestation is not easily possible because of legal constraints. METHODS Twenty-six Swedish-speaking pregnant women (n = 14) and partners (n = 12) were consecutively recruited for semi-s...
متن کاملPrenatal Diagnosis of a Fetus with de novo Supernumerary Ring Chromosome 16 Characterized by Array Comparative Genomic Hybridization
A fetus with de novo ring chromosome 16 is presented. At 20 weeks' gestation, ultrasound examination demonstrated bilateral clubfoot, bilateral renal pyelectasis, hypoplasia of the corpus callosum, and transposition of the great vessel. Amniocentesis was performed. Chromosome analysis identified a ring chromosome 16 [47,XY,r(16)] and array comparative genomic hybridization (a-CGH) demonstrated ...
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ژورنال
عنوان ژورنال: Case Reports in Genetics
سال: 2012
ISSN: 2090-6544,2090-6552
DOI: 10.1155/2012/794075