Chromosomal anomalies

This book is meant to summarize our current knowledge of the structure, function and evolution of microtubule organizing centers, primarily centrosomes. Emphasis is on the role of these organelles in development and disease (particularly cancer).

474p vimeyers 29-05-2024 2 2   Download

Despite extensive research the genetic component of extremely low birth weight (ELBW) in newborns has remained obscure. A family of four was studied: mother, father and two ELBW-phenotype children. Studies were made of the medical conditions of the second child at birth and post-partum - peculiar phenotype, micro-anomalies, recurrent infections, suspicion of autoimmune hepatitis, multifactorial encephalopathy and suspected metabolic and chromosomal abnormalities.

5p vinarcissa 21-03-2023 6 1   Download

Potocki -Lupski syndrome is an uncommon disorder caused by a micro-duplication in chromosome 17p11.2. Variable clinical manifestations bring troubles to the general and neuraxial anesthesia, including mental retardation, facial dysmorphisms, structural cardiovascular anomalies, scoliosis, and malignant hyperthermia. Until now, the anesthesia management for cesarean section in these patients has not been reported yet.

3p vidietmarhopp 28-12-2021 5 0   Download

Microdeletion of chromosome 22q11 is associated with significant developmental anomalies, including disruption of the cardiac outflow tract, thymic/parathyroid aplasia and cleft palate. Amongst the genes within this region, TBX1 is a major candidate for many of these developmental defects.

20p vibeauty 23-10-2021 4 0   Download

Palatoschisis or cleft palate is a known anomaly in pigs resulting in their death. However, little is known about its aetiology. A detailed description of the phenotype was derived from necropsy and by computed tomography revealing that all 20 cases also exhibited hypodontia and renal cysts.

11p visilicon2711 20-08-2021 9 1   Download

Because of the need for more data on the knowledge of the recurrence risks involved in case of Heteromorphisms and karyotype abnormalities, the present study was undertaken with the objective of investigating the role of heteromorphic variations and karyotype anomalies on infertility in male and female subjects.

14p cothumenhmong7 09-09-2020 12 1   Download

The rearrangements of the 22q11.2 chromosomal region, most frequently deletions and duplications, have been known to be responsible for multiple congenital anomaly disorders.

6p vichengshin2711 26-02-2020 15 0   Download

Wolfram syndrome (WS), caused by mutations of the Wolfram syndrome 1 (WFS1) gene on chromosome 4p16.1, is an autosomal recessive disorder characterized by diabetes insipidus (DI), neuro-psychiatric disorders, hearing deficit, and urinary tract anomalies.

4p vidr2711 19-02-2020 16 0   Download

In French Guiana, pregnant women may be exposed to infectious, environmental, and social risks leading to congenital malformation. The objective of the study was to study mortality rates from congenital malformations among infants < 1 year and to compare them with those in mainland France.

5p vidublin2711 13-01-2020 9 0   Download

The effect of diethyl sulphate (DES) and sodium azide (SA) was studied on the meiotic behaviour of Vicia faba L. var. major in the M1 generation. Five concentrations of SA (0.01%, 0.02%, 0.03%, 0.04%, and 0.05%) were combined with DES (0.02%) to study the synergistic and antagonistic effects of these 2 mutagens. A dose-dependent increase in chromosomal aberrations was recorded in populations treated with both the mutagens individually and their combination doses.

7p vibasque27 27-03-2019 16 0   Download

The genotoxic effects of 2 heavy metals (mercury chloride and cadmium chloride) on the gametic cells of 6 inbred lines of maize were tested in terms of cytological abnormalities. Meiosis was normal under control conditions. During the treatments with mercury and cadmium there was a concentration-dependent increase in meiotic abnormalities in all the inbred lines.

8p vibasque27 27-03-2019 16 1   Download

EMS was used as a mutagen in Capsicum annuum L. to isolate karyomorphological mutants. Seeds of Capsicum annuum L. var Azad were first pre-soaked in distilled water and then treated with 0.5% solution of EMS for 3 durations, i.e. 3, 5, and 7 h, and genetic segregation was closely observed.

6p vitamix 15-02-2019 21 1   Download

Chemical mutagen induced chromosomal variations were broadly observed from the point of view of understanding the mechanics of EMS induced anomalies and biological dosimetry in Zea mays L.

9p vitamix 15-02-2019 11 1   Download

The cytogenetic effects of copper chloride on root tip cells of Helianthus annuus were investigated. Seeds were treated with 10, 25, 50 and 100 mg/L (ppm) of copper chloride for 24 h. It was found that copper chloride has a marked mitodepressive action on mitosis. Mitotic abnormalities were increased and the mitotic index was decreased depending on the concentration of the copper chloride applied.

4p vitamix 15-02-2019 17 1   Download

Gamma irradiation can induce beneficial as well as deleterious impacts on chromosome behavior in crop plants. The cytogenetic changes occurring due to the storage of inbred seeds after gamma irradiation in the somatic and gametic cells of Zea mays L. were investigated in this study.

10p vivant2711 15-02-2019 10 1   Download

(bq) part 1 book “pediatric pathology - a course review” has contents: multiple pregnancies and conjoined twins, congenital anomalies and malformation syndromes, basics of molecular biology and perinatal chromosomal abnormalities, fetal effusions and hydrops fetalis, placental pathology,… and other contents.

169p tieu_vu15 07-09-2018 25 2   Download

The programme is indebted to the five hundred plus international nurses from twentythree different countries who have worked and studied with us over the last four years at the Oxford Radcliffe Hospitals NHS Trust, the University Hospitals of Leicester NHS Trust and other hospitals. They have tested our new ideas, suggested improvements and shown honesty, courage and a sense of humour throughout. We are particularly grateful to the international nurses who commented on the first drafts of this book....

192p mnemosyne75 02-02-2013 61 8   Download

I wrote the first edition of this book more than 20 years ago, and the discoveries in genetics since then have been phenomenal. The new knowledge and applications of human genetics to health and to society have made it even more necessary that nurses "think genetically" in their practice and, indeed in their lives. Genetic factors can be responsible in some way for both direct and indirect disease causation; for variation that determines predisposition, susceptibility, and resistance to disease and also for response to therapeutic management.

0p mnemosyne75 02-02-2013 43 4   Download

Congenital abnormalities of the kidney and urinary tract are reported to occur in 5 to 10% of the population [9]. They represent 25% of the total ultrasonographically diagnosed malformations that occur in 0.25–0.7% of fetuses. About 1/3 to 2/3 of ESRD in children are due to congenital ab- normalities of the kidney and urinary tract. In addition, these abnormalities occur in 23% of patients with chromosomal aberrations, and 2/3 of patients with abnormalities of other organ systems.

0p connhobinh 10-12-2012 39 0   Download

The preparation of human karyotype for the first time in 1959 led to the identification of numerical aberrations in the following years associated with Down’s, Turner and Klinefelter syndromes which implied the need for routine screening for chromosomal anomalies in certain clinical conditions.

512p conquynho32 15-09-2012 62 8   Download