aaynkh aftby Book Archive > Urology > A Handbook of Clinical Genetics by J. S. Fitzsimmons (Auth.)

A Handbook of Clinical Genetics by J. S. Fitzsimmons (Auth.)

By J. S. Fitzsimmons (Auth.)

Show description

Read or Download A Handbook of Clinical Genetics PDF

Similar urology books

Pediatric Robotic Urology

Robot know-how has lead the way for brand spanking new possibilities in pediatric urologic surgical procedure. the place as soon as laparoscopy used to be constrained to urological stipulations in youngsters similar to undescended testicles and ambiguous genitalia, robot suggestions are actually permitting the of entirety of enormously wanted, extra concerned techniques.

Kidney Development in Renal Pathology

This quantity offers a entire, state-of-the paintings evaluate within the box of experimental and human nephrogenesis. The ebook reports new information at the results on kidney improvement via neonatal asphyxia, obstructive uropathies, nephrotoxic medicines, malnutrition, underfeeding, overfeeding and offers all attainable preventive measures to make sure the health and wellbeing of the kidney at beginning.

The Prostate Cancer Dilemma: Selecting Patients for Active Surveillance, Focal Ablation and Definitive Therapy

This article presents a finished, state-of-the paintings evaluate of this box, and should function a helpful source for clinicians, surgeons and researchers with an curiosity in early prostate melanoma. The booklet stories new info approximately genetic markers, transperineal mapping biopsy and mpMRI, the way to follow each one of those applied sciences in sufferers with increased PSA, whilst a previous prostate biopsy played via the traditional TRUS strategy is unfavorable and in instances the place low threat sickness is already clinically determined, the way to differentiate these males who may possibly harbor extra competitive illness from those that don't.

The Kidney: A Comprehensive Guide to Pathologic Diagnosis and Management

This quantity presents a pragmatic, accomplished evaluate on benign and malignant disorder of the grownup kidney. The textual content addresses the subject of evaluate and administration of sufferers with surgical renal illness. inside of this scope, it comprises hereditary and spontaneous renal neoplasms, in addition to non-neoplastic sickness that manifests as a clinically proper mass.

Extra info for A Handbook of Clinical Genetics

Example text

Result of abnormal division of the chromosome during cell division. The X chromosome divides transversely instead of longitudinally at the centromere. This results in a long and short chromosome instead of two identical halves. The short arm is lost and the long arm, called an isochromosome, survives. There has been sufficient genetic material lost in this process to produce the features of Turner's Syndrome. Although the Y chromosome carries relatively little genetic information, in addition to the coded instruction necessary for 'maleness', it does have essential genes.

As with dominantly inherited disease the action of the gene is not an all-or-none phenomenon. In recessive disease the heterozygote carrier, although physically normal, may well manifest some biochemical evidence of the condition. Tay-Sachs disease is a good example and this disorder is seen most frequently in the Ashkenazic 36 CLINICAL GENETICS Affected Heterozygote Heterozygote Fig. 6 Mechanism of recessive inheritance. Both parents, clinically normal, carry the abnormal gene and are heterozygotes.

INHERITANCE PATTERNS HH ΙΐΙΐ UK KK • ·· · ΙίΙί Μ on KK KK 55 nn nri nil MM HH Fig. 25 Karyotype trisomy 8. This patient had in addition some cells with a normal karyotype and was therefore said to be a mosaic. His karyotype - 4 7 , X Y , + 8 / 4 6 , X Y . one daughter cell and none to the other daughter cell. This is seen in Fig. 26 and is referred to as non-disjunction. At fertilisation a sperm carrying a normal single N o . 2 1 chromosome fertilises the ovum containing two N o . 2 1 s and trisomy ensues.

Download PDF sample

Rated 4.06 of 5 – based on 45 votes