Comparison between self sampling and provider collected samples for Human Papillomavirus (HPV) Deoxyribonucleic acid (DNA) testing in a Nigerian facility.

Introduction: The multiple visits required for an effective Pap smear screening program is difficult to replicate in many developing countries. This precludes early diagnosis and care for patients with cervical cancer and contributes to its high mortality in these countries. HPV screening has higher specificity and high negative predictive value and has the advantage that materials can be self-collected, which permits the screening of women who for various cultural and religious reasons would be reluctant to come to the clinic to expose themselves for screening.

Gain of chromosome 4qter and loss of 5pter: an unusual case with features of cri du chat syndrome.

Here, we present a case with an unusual chromosomal rearrangement in a child with a predominant phenotype of high-pitched crying showing deletion encompassing CTNND2 due to an unbalanced translocation of chromosomes 4 and 5. This rearrangement led to a duplication of ~35 Mb in 4qter which replaced 18 Mb genetic materials in 5pter. Even though, in this patient, there was no clinically obvious modification to the classical phenotypes of CdCS, and the influence of the 4q-duplication cannot be completely excluded in this case.

Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports.

The Wolf-Hirschhorn syndrome (WHS) is a multiple malformation and contiguous gene syndrome resulting from the deletion encompassing a 4p16.3 region. A microscopically visible terminal deletion on chromosome 4p (4p16→pter) was detected in Case 1 with full blown features of WHS.