Chromosome Translocation t(6; 14) With Different Phenotypes and Segregation Patterns: A Report of Two Cases.

Chromosomal rearrangement can disrupt gene function by interfering with coding sequences or their regulatory regions. The breakpoint in these rearrangements can pinpoint the disease-related gene's location. This paper presents two rare cases of chromosomal rearrangement involving chromosome 6 (6p24-25) and chromosome 14 (14q22-23).

The Key Aspects of Neonatal and Infant Neurological Examination: The Ballard Score, the Infant's Head with Hydrocephalus and Assessment in a Clinical Setting.

The physical examination of the newborn is essential in diagnosing neurological or neurosurgical conditions in the newborn. This article focuses on three clinical assessments of newborns and infants that are especially important if neurological problems are suspected: The Ballard score, the examination of the head in a baby with (suspected) hydrocephalus, and the neurological and developmental evaluation of an infant in an ambulatory setting. A textual description and a link to a video describe each assessment.

Antiseptic solutions for skin preparation during central catheter insertion in neonates.

Background: Central venous catheters (CVC) are associated with potentially dangerous complications such as thromboses, pericardial effusions, extravasation, and infections in neonates. Indwelling catheters are amongst the main risk factors for nosocomial infections. The use of skin antiseptics during the preparation for central catheter insertion may prevent catheter-related bloodstream infections (CRBSI) and central line-associated bloodstream infections (CLABSI).

Karyotype patterns, clinical features, and parental ages of three predominant live born autosomal trisomies of Northeast Malaysia.

Chromosomal abnormality is one of the causes of congenital disorders among newborns. Despite aneuploidy being the major cause of first trimester miscarriages, very few aneuploidies such as trisomies of chromosomes 13, 18 and 21 survive to birth. The results of 4,064 patients referred for cytogenetic analysis at Human Genome Centre, Universiti Sains Malaysia, Kelantan, Malaysia between 2008 and 2019 were reviewed.