How does Williams syndrome affect daily life?

Young children with Williams syndrome have distinctive facial features including a broad forehead, puffiness around the eyes, a flat bridge of the nose, full cheeks, and a small chin. Many affected people have dental problems such as teeth that are small, widely spaced, crooked, or missing.

Is monosomy compatible with life?

The presence of an extra chromosome is called trisomy whereas the absence of one copy of a chromosome is called monosomy (Fig. 1.4A). This level of variation is poorly tolerated; most trisomies or monosomies are incompatible with life.

Can you live a normal life with Williams syndrome?

Most people with Williams syndrome have a normal life expectancy, but some may have a reduced life expectancy due to complications of the disease (such as cardiovascular problems).

Why do Monosomic individuals fail to survive?

Monosomic human zygotes missing any one copy of an autosome invariably fail to develop to birth because they have only one copy of essential genes.

What is 7q deletion syndrome?

Children with 7q Deletion Syndrome typically will have one (chromosome 7) in normal condition, while the other is abnormal. The abnormality is characterized by a loss of chromosomal material

What are the effects of microdeletion in the 7q terminal?

The findings of our study are consistent with those of previous studies and report that microdeletion in the 7q terminal may lead to abnormal brain and facial structures, developmental delay, and intellectual disability ( Linhares et al., 2014; Busa et al., 2016 ).

How many cases of terminal deletions and interstitial deletions of chromosome 7?

Sixteen cases of terminal deletions and 17 cases of interstitial deletions of the long arm of chromosome 7 have been reported to date. We present two new cases of the former and three of the latter. The somatic changes in these patients are tabulated and an update on the anomalies associated with th …

What are the different types of deletions in chromosomes?

The type of deletions may be termed proximal (when it is closer to the center of the chromosome), distal (when the deletion is closer to the tip), interstitial (when there are two breakpoints in the chromosome arm), and terminal (when the tip/end of the chromosome is lost).