نتایج جستجو برای: yq microdeletion
تعداد نتایج: 1741 فیلتر نتایج به سال:
We report on a patient with NF1 microdeletion and clinical manifestations that fulfill the diagnostic criteria for neurofibromatosis type 1 but also presenting features reminiscent of Proteus syndrome.
BACKGROUND Little information is available regarding the penetrance of 1q21.1 copy number variants (CNVs). In the present study, we explored the clinical significance of 1q21.1 microdeletion or microduplication. METHODS In four families, chromosome karyotype was analyzed using G-banding karyotype analysis technology. CNVs were detected using array-comparative genomic hybridization (aCGH) and ...
Congenital malformations resulting in late abortions and stillbirths affect the economic wellbeing of producers and the welfare of cattle in breeding programs. An extremely high incidence of stillbirths of "half-sized" calves of normal karyotype and uninflated lungs was diagnosed in the progeny of the Finnish Ayrshire (Bos taurus) bull--YN51. No other visible anatomical abnormalities were appar...
Silver-Russell syndrome (SRS) is a heterogeneous disorder associated with intrauterine and postnatal growth restriction, body asymmetry, a relative macrocephaly, a characteristic triangular face and further dysmorphisms. In about 50% of patients, genetic/epigenetic alterations can be detected: >38% of patients show a hypomethylation of the IGF2/H19 imprinting region in 11p15, whereas the additi...
BACKGROUND To compare the frequency of Y-chromosome microdeletions in Japanese and African azoospermic and oligozoospermic men and describe embryo characteristics and reproductive outcome following in vitro fertilization (IVF) with intracytoplasmic sperm injection (ICSI). METHODS Our study was performed prospectively at two centers, a private IVF clinic and a university hospital. Japanese and...
BACKGROUND Chromosome 15q24 microdeletion syndrome is a rare genomic disorder characterised by intellectual disability, growth retardation, unusual facial morphology and other anomalies. To date, 20 patients have been reported; 18 have had detailed breakpoint analysis. AIM To further delineate the features of the 15q24 microdeletion syndrome, the clinical and molecular characterisation of fif...
The Diophantine equation x n−1 x−1 = yq has four known solutions in integers x, y, q and n with |x |, |y|, q > 1 and n > 2. Whilst we expect that there are, in fact, no more solutions, such a result is well beyond current technology. In this paper, we prove that if (x, y, n, q) is a solution to this equation, then n has three or fewer prime divisors, counted with multiplicity. This improves a r...
Objective: Microdeletions of azoospermia factor (AZF) regions in Y chromosome were a genetic risk factor of spermatogenic failure and male infertility. Most laboratories carried out the AZF microdeletion testing by using peripheral intravenous blood, and AZF microdeletion in spermatozoa of infertile patients was sometimes not identical to that of peripheral intravenous blood due to the existenc...
A merging of two ordered lists x 1 ..... Xp and Yl,-. ,Yq is said to be constrained if it must satisfy prescribed conditions of the form "x i precedes yj" and "y, precedes xs". An algorithm is given for calculating the number of mergings which satisfy any given set of constraints. The algorithm has time complexity O(pq) but in many cases runs significantly faster. It is illustrated with example...
Planar functions over finite fields give rise to finite projective planes and other combinatorial objects. They were originally defined only in odd characteristic, but recently Zhou introduced a definition in even characteristic which yields similar applications. In this paper we show that certain functions over F2r are planar, which proves a conjecture of Schmidt and Zhou. The key to our proof...
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