Few cases of deletion 1p have been reported. We report a case of terminal deletion 1p35 in a patient with psychological and neurological dysfunction.

Chromosomal abnormalities involving 2q32q33 deletions are very rare and present with a specific phenotype. This case report describes a 37-year-old female patient with 2q32q33 microdeletion syndrome presenting with the characteristic features, but with the addition of secondary cognitive decline. Molecular karyotyping was performed on the patient and her parents. It revealed an 8.6 megabase del...

We report a girl with a de novo distal deletion of 9p affected by idiopathic central precocious puberty and intellectual disability. Genome-wide array-CGH revealed a terminal deletion of about 11 Mb, allowing to define her karyotype as 46; XX, del(9)(p23-pter). To our knowledge, this is the second reported case of precocious puberty associated with 9p distal deletion. A third case associates pr...

background: about 15% of couples have infertility problems which 40% of them are related to the male factors. genetic factors are candidate for about 10% of male infertility conditions. among these, azfa, azfb, azfc and azfd regions on the yq are considered most important for spermatogenesis. microdeletions of these regions are thought to be involved in some cases of azoospermic or oligospermic...

background: spinal muscular atrophy (sma) is the second most common lethal autosomal recessive disease. it is a neuromuscular disorder caused by degenerative of lower motor neurons and occasionally bulbar neurons leading to progressive limb paralysis and muscular atrophy. the smn1 gene is recognized as a sma causing gene while naip has been characterized as a modifying factor for the clinical s...

We study the computational complexity of $c$-Colored $P_\ell$ Deletion and $C_\ell$ Deletion. In these problems, one is given a $c$-edge-colored graph wants to destroy all induced $c$-colored paths or cycles, respectively, on $\ell$ vertices by deleting at most $k$ edges. Herein, path cycle if it contains edges $c$ distinct colors. show that are NP-hard for each non-trivial combination $\ell$. ...

In this article we introduce the operations of insertion and deletion working in a random-context and semi-conditional manner. We show that the conditional use of rules strictly increase the computational power. In the case of semi-conditional insertion-deletion systems context-free insertion and deletion rules of one symbol are sufficient to get the computational completeness. In the random co...

Extensive research in case-base maintenance has studied methods for achieving compact, competent case bases. This work has examined how to achieve good solution performance while limiting the number of cases retained, using approaches such as competence-based case deletion. Two fundamental assumptions of such approaches have been (1) that cases are approximately the same size and (2) that the o...

Chromosome 10p deletion is a rare disorder. This is the largest deletion in chromosome 10p reported to date and the first to be diagnosed in the early neonatal period because of severe clinical manifestations. This rare case might help to understand the genotype-phenotype spectrum in infants with 10p deletion.

An interstitial deletion (5) (p13p15.1) was found in a mentally retarded woman and three of her four children. The variable manifestation of this chromosomal defect and the relevance of this particular deletion to the cri du chat syndrome are discussed. To our knowledge the only other reported case of inherited 5p deletion from an affected parent involved the terminal segment of the 5p15.3 band.