What is Witteveen Kolk syndrome?

What is Witteveen Kolk syndrome?

Witteveen-Kolk syndrome (OMIM #613406) was first described in 2016 with characteristic distinctive facial features, microcephaly, short stature, mild intellectual disability (ID) with delayed cognitive and motor development and subtle anomalies on MRI-brain imaging [1].

How many microdeletion syndromes are there?

Theoretically, for every microdeletion syndrome there should be a reciprocal microduplication syndrome. However, there are at present 211 microdeletion syndromes versus only 79 microduplication syndromes reported (Table 1, Suppl.

Is micro deletion a disability?

This may result in marked psychosocial impairments, particularly for those with moderate, severe and profound intellectual disabilities. Microdeletion is considered to be one of the prenatal causes of intellectual disability.

What causes micro deletion?

5q31. 3 microdeletion syndrome is caused by a chromosomal change in which a small piece of chromosome 5 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q31. 3.

What causes Microduplication?

Microdeletion and microduplication syndromes are disorders caused by submicroscopic deletions or duplications of contiguous genes on particular parts of chromosomes.

What is the most common microdeletion syndrome?

The most common microdeletion syndromes are DiGeorge syndrome (22q11. 2), Prader-Willi syndrome, Angelman syndrome (15q11-13), Williams syndrome (7q11. 23), and Wolf-Hirschhorn syndrome (4p16.

How small is a microdeletion?

Microdeletions, or submicroscopic deletions, are chromosomal deletions that are too small to be detected by light microscopy using conventional cytogenetic methods. Specialized testing is needed to identify these deletions. Microdeletions are typically 1 to 3 Mb long and involve several contiguous genes.

Why do Microdeletions happen?