Prenatal diagnosis of a 15q11.2-q14 deletion of paternal origin associated with increased nuchal translucency, mosaicism for de novo multiple unbalanced translocations involving 15q11-q14, 5qter, 15qter, 17pter and 3qter and Prader–Willi syndrome
نویسندگان
چکیده
منابع مشابه
Prenatal diagnosis of holoprosencephaly associated and proboscis in a fetus with de novo deletion 18p
Objective Holoprosencephaly (HPE) is the most common forebrain developmental anomaly in humans with prevalence of 1/ 16, 000 in live borns that results from a failure of prosencepholon cleavage. In most of the cases, due to defective primordial mesenchyme, facial anomalies are observed like cyclopia, proboscis, median or bilateral cleft lip/palate in severe forms, ocular hypotelorism or solitar...
متن کاملa comparison of teachers and supervisors, with respect to teacher efficacy and reflection
supervisors play an undeniable role in training teachers, before starting their professional experience by preparing them, at the initial years of their teaching by checking their work within the proper framework, and later on during their teaching by assessing their progress. but surprisingly, exploring their attributes, professional demands, and qualifications has remained a neglected theme i...
15 صفحه اولthe innovation of a statistical model to estimate dependable rainfall (dr) and develop it for determination and classification of drought and wet years of iran
آب حاصل از بارش منبع تأمین نیازهای بی شمار جانداران به ویژه انسان است و هرگونه کاهش در کم و کیف آن مستقیماً حیات موجودات زنده را تحت تأثیر منفی قرار می دهد. نوسان سال به سال بارش از ویژگی های اساسی و بسیار مهم بارش های سالانه ایران محسوب می شود که آثار زیان بار آن در تمام عرصه های اقتصادی، اجتماعی و حتی سیاسی- امنیتی به نحوی منعکس می شود. چون میزان آب ناشی از بارش یکی از مولفه های اصلی برنامه ...
15 صفحه اولOutcome of pregnancies with increased nuchal translucency
Methods A total of 1490 pregnant women were assessed for first trimester ultrasonography. They had routinely measured crown-rump length (CRL) and nuchal translucency (NT) for screening for Down syndrome between 11 and 14 weeks of gestation. Cases with a NT≥3 mm were counselled further regarding the risk of chromosomal abnormality and prenatal diagnosis by fetal karyotyping. A complete follow-up...
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ژورنال
عنوان ژورنال: Taiwanese Journal of Obstetrics and Gynecology
سال: 2021
ISSN: 1028-4559
DOI: 10.1016/j.tjog.2021.01.012