objective: globozoospermia is a rare syndrome with an incidence of less than 0.1% among infertile men. researchers have recently identified a large deletion, about 200 kbp, encompassing the whole length of dpy19l2 or mutations in spata16 and pick1 genes associated with globozoospermia. the aim of this study was to analyze the dpy19l2 gene deletion using polymerase chain reaction technique for t...

We introduce a framework for reducing the number of element comparisons performed in priority-queue operations. In particular, we give a priority queue which guarantees the worst-case cost of O(1) per minimum finding and insertion, and the worst-case cost of O(log n) with at most log n+O(1) element comparisons per minimum deletion and deletion, improving the bound of 2 logn+ O(1) on the number ...

Cayler cardiofacial syndrome comprises congenital unilateral hypoplasia of the depressor anguli oris muscle (HDAOM) and congenital heart defects [Cayler, 1969]. Hypoplasia of this muscle leads to failure of one corner of the mouth to move downward and outward while crying or grimacing and hence, is described as ‘‘asymmetric crying face.’’ Asymmetric facial expression is most noticeable in young...

The majority of case-based planning systems consider an infinite case memory to store their cases. However, the size of the case memory is limited and it can become a barrier for case-based systems efficiency when it is full. This paper presents a method that refines and abstracts cases in order to release memory space for a new case. However, in some situations, some cases must be chosen to be...

The 22q11.2 deletion syndrome is caused by a microdeletion of chromosome 22. One third of all patients with 22q11.2 deletion develop schizophrenia-like symptoms. In general, the prevalence of 22q11.2 deletion in patients with schizophrenia is 1%-2%. The 22q11.2 deletion is one of the major known genetic risk factors for schizophrenia. However, clinical differences in the phenotypes between pati...

An AVL tree [1] is the original type of balanced binary search tree. An insertion in an n-node AVL tree takes at most two rotations, but a deletion in an n-node AVL tree can take Θ(log n). A natural question is whether deletions can take many rotations not only in the worst case but in the amortized case as well. A sequence of n successive deletions in an n-node tree takes O(n) rotations [3], b...

Infant T-cell acute lymphoblastic leukaemia (iT-ALL) is a very rare and poorly defined entity with a poor prognosis. We assembled a unique series of 13 infants with T-ALL, which allowed us to identify genotypic abnormalities and to investigate prenatal origins. Matched samples (diagnosis/remission) were analysed by single nucleotide polymorphism-array to identify genomic losses and gains. In th...

Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, develo...