Congenital spinal deformity in a three generation family

I K Temple1, T G Thomas, M Baraitser

  • 1Department of Paediatric Genetics, Institute of Child Health, London.

Related Concept Videos

Pedigree Analysis01:35

Pedigree Analysis

Overview
Neurulation01:30

Neurulation

Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the anterior...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Nondisjunction01:21

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...
Vertebral Column: Regions and Curvature01:16

Vertebral Column: Regions and Curvature

The vertebral column or spine is a flexible column that supports the head, neck, and body and  allows for their movements. It also protects the spinal cord.
Regions of the Vertebral Column
In an adult, the spine is subdivided into five regions: the cervical, the thoracic, the lumbar, the sacral, and the coccygeal region. The spine initially develops as a series of 33 vertebrae; after 20 years of age, the nine bones in the sacral region, five sacral, and four coccygeal bones fuse to form the...