We report on the prenatal diagnosis of a case of cebocephaly, alobar holoprosencephaly, and microcephaly associated with a de novo proximal interstitial deletion of the long arm of chromosome 14: del(14)(q13q21.1) or (q13q21.2). This is the third case of holoprosencephaly in association with a deletion in this region. The present report concerns the association between prenatal craniofacial dev...

Chromosome 13 is one of the acrocentric chromosomes of the human karyotype. Acrocentric chromosomes are the most variable chromosomes in the human karyotype and these variations appear to have no clinical consequences. To the best of our knowledge, this is the first reported case of a first trimester presentation of a 13 short arm satellite deletion with markedly increased nuchal translucency (...

Today, there are not many good measures for detecting influential observations in case of fitting a logistic regression model. So, the purpose this article is to extrapolate from pre-existing deletion diagnostics defined points multiple linear regression, i.e. DFFITS, DFBETAS and Cook's Distance scenario binary model then view multinomial as special same. The threshold determining whether an ob...

INTRODUCTION deletion of long arm of chromosome 1(1q-) is a rare condition. Clinical features include Dwarfism, severe mental retardation, microcephaly and short neck delineating the "intermediate 1q deletion syndrome". CASE REPORT we report a new case of interstitial deletion of the long arm of chromosome 1, diagnosed in a 22+3 weeks gestation fetus in which cytogenetic analysis localized a ...

Chromosome 22q11.2 deletion syndrome, also known as DiGeorge or velocardiofacial syndrome, is associated with a wide spectrum of phenotypic features. It is known to be associated with severe macrothrombocytopenia. Postpartum hemorrhage is a leading cause of maternal morbidity and mortality globally. Chromosome 22q11.2 deletion syndrome is rare cause of thrombocytopenia that can be a significant...

We present rapid aneuploidy diagnosis of distal 9p deletion by array comparative genomic hybridization using uncultured amniocytes in a pregnancy associated with an abnormal maternal serum screening result and intrauterine growth restriction (IUGR) in the fetus. We review the literature of prenatal diagnosis of distal 9p deletion, and add abnormal maternal serum biochemistry and fetal IUGR in t...

Malignant mesotheliomas are rather uncommon neoplasms associated primarily with asbestos exposure; however, they may also arise as second primary malignancies after radiation therapy, with a latency period of 15-25 years. Numerous studies have reported an association between pleural malignant mesothelioma and chest radiation performed for other malignancies; on the other hand, post-irradiation ...

shigella species (spp.) are gram-negative bacteria that are responsible for shigellosis. although it can be controlled via antibiotics, increasing number of antibiotic resistant isolates of shigella have been reported. therefore, other strategies such as production of specific vaccine against this organism could be a suitable therapeutic approach. attenuated live vaccines produced by gene delet...

Terminal deletions in the long arm of chromosome 1 result in a postnatally recognizable disorder described as 1q43q44 deletion syndrome. The size of the deletions and the resulting phenotype varies among patients. However, some features are common among patients as the chromosomal regions included in the deletions. In the present case, ultrasonography at 22 weeks of gestation revealed choroid p...