Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q)
نویسندگان
چکیده
منابع مشابه
passivity in waiting for godot and endgame: a psychoanalytic reading
this study intends to investigate samuel beckett’s waiting for godot and endgame under the lacanian psychoanalysis. it begins by explaining the most important concepts of lacanian psychoanalysis. the beckettian characters are studied regarding their state of unconscious, and not the state of consciousness as is common in most beckett studies. according to lacan, language plays the sole role in ...
Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.
BACKGROUND Congenital hyperinsulinism (HI) can have monogenic or syndromic causes. Although HI has long been recognised to be common in children with Beckwith-Wiedemann syndrome (BWS), the underlying mechanism is not known. METHODS We characterised the clinical features of children with both HI and BWS/11p overgrowth spectrum, evaluated the contribution of KATP channel mutations to the molecu...
متن کاملMaternal uniparental disomy of chromosome 13 in a phenotypically normal child.
A case of maternal uniparental disomy of chromosome 13 is described. The subject is a phenotypically normal male who inherited a t(13;13)(p11.2;p11.2) from his mother who is a carrier of this translocation. The mother was ascertained through a history of recurrent abortion and is phenotypically normal. The translocation in both subjects was studied by cytogenetic and DNA analysis and appears to...
متن کاملMosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy.
OBJECTIVE Activating mutations in the KCNJ11 and ABCC8 genes encoding the Kir6.2 and SUR1 subunits of the pancreatic ATP-sensitive K(+) channel are the most common cause of permanent neonatal diabetes. In contrast to KCNJ11, where only dominant heterozygous mutations have been identified, recessively acting ABCC8 mutations have recently been found in some patients with neonatal diabetes. These ...
متن کاملdesigning and validating a textbook evaluation questionnaire for reading comprehension ii and exploring its relationship with achievement
در هر برنامه آموزشی، مهم ترین فاکتور موثر بر موفقیت دانش آموزان کتاب درسی است (مک دونو و شاو 2003). در حقیقت ، کتاب قلب آموزش زبان انگلیسی است( شلدن 1988). به دلیل اهمیت والای کتاب به عنوان عنصر ضروری کلاس های آموزش زبان ، کتب باید به دقت ارزیابی و انتخاب شده تا از هرگونه تاثیر منفی بر دانش آموزان جلوگیری شود( لیتز). این تحقیق با طراحی پرسش نامه ارزیابی کتاب که فرصت ارزیابی معتبر را به اساتید د...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2001
ISSN: 1468-6244
DOI: 10.1136/jmg.38.3.214