Limited survivability of unbalanced progeny of carriers of a unique t(4;19)(p15.32;p13.3): a study in multiple generations.

Background: Carriership of a reciprocal chromosomal translocation (RCT) involving the short arm of chromosome 4 (4p) may result in birth of a child with Wolf-Hirschhorn syndrome (WHS) due to monosomy 4p, a priori modified by the impact of the partner chromosome imbalance. Familial transmission studies of RCT enable obtaining empirical risk figures that are essential for genetic counseling. In this study, pedigree data from carriers of a unique t(4;19)(p15.

Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1.

Purpose: The purpose of this study was to compare meiotic segregation in sperm cells from two carriers with t(4;8)(p16;p23.1) reciprocal chromosome translocations (RCTs), differing in localization of the breakpoint positions at the 4p subband-namely, 4p16.3 (carrier 1) and 4p16.

Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B.

The identification of chromosomal breakpoints in association with human abnormal phenotypes can enable elucidation of gene function. We report on epiphyseal aseptic necrosis of the lesser head of the second metatarsal bone, known as Freiberg's infraction (FI), in two female carriers of the apparently balanced t(5;7)(p13.3;p22.

Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter.

The aim of this study was to obtain a quantitative definition of Wolf-Hirschhorn syndrome (WHS) through systematic phenotypic analyses in a group of six children with 4p15.32 → pter, 4p15.33 → pter, or 4p16.

Informed consent procedure for clinical trials in emergency settings: the Polish perspective.

Setting reasonable and fair limits of emergency research acceptability in ethical norms and legal regulations must still adhere to the premise of well-being of the research subject over the interests of science and society. Informed consent of emergency patients to be enrolled in clinical trials is a particularly difficult issue due to impaired competencies of patients' to give consent, short diagnostic and therapeutic windows, as well as the requirement to provide detailed information to participants. Whereas the Declaration of Helsinki, Good Clinical Practice guideline, Additional Protocol to the European Bioethical Convention concerning Biomedical Research, as well as appropriate regulations adopted by the Food and Drugs Administration (USA) allow waivers from participants' consent or deferred consent for emergency research, the regulations of most European Community countries following the Clinical Trial Directive (2001/20/EC) do not give space for a deferred consent or a waiver from consent for adult patients (unless surrogate consent is made use of).