Clinical Genetics Made Simple : Developmental Disorders of Spinal Cord

Spina Bifida with Myelomeningocoele :

This condition occurs due to failure of posteriorly located vertebral arches to fuse posteriorly.

It can vary in severity from a completely asymptomatic minor abnormality to protrusion of the spinal

cord and its roots through an open skin defect with a  high risk of trauma or infection causing

paralysis.

Severe Scoliosis   :

This occurs due to failure of the development of  one of the paired primary ossification centres of the

body & it can produce very severe scoliosis.

Clinical Genetics Made Simple :Associations between Chromosomes & Malignancies

Chromosome 11 :

This chromosome is the site of Wilms" tumor suppressor gene WT-1.

Wilms tumor occurs in children . It presents clinically with abdominal mass , hypertension ,hematuria,nausea and intestinal obstruction.

This tumor is derived from mesonephric mesoderm and includes mesodermal derivatives such as bone,cartilage and muscle.

Chromosome 5 :

This is the site of Tumor Suppressor Gene APC which is involved in pathogenessis of colon cancer and familial adenomatous polyposis.

Chromosome 13 :

This is the site of tumor suppressor gene for Retinoblastoma and Osteosarcoma Rb as well as BRCA-2 gene for breast cancer.

Chromosome 17 :

This is the site of p53 involved in most human cancers, NF -1 Neurofibromatosis type 1 and BRCA-1 (breast and ovarian cancer).