Duplications are even less common, showing a prevalence of 0.7 per 10,000 births and representing ≍ 2% of all the chromosome abnormalities identified (Wellesley et al., 2012).

Chromosome 1 likely contains 2,000 to 2,100 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body.

1 duplication syndrome is a chromosomal disorder caused by duplication of a small piece of chromosome 1. The syndrome is characterized by features such as large head size, developmental delay, intellectual disabilities, typical facial features, cardiac problems, and seizures.

Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7.

Among the babies with a small deletion within band 7q36, most problems in the first days of life related to feeding. Babies with larger deletions (extending as far as 7q32) were more likely to have more problems with breathing as well and tended to have slightly lower Apgar scores (standardised score from 0 to 10 of a baby’s wellbeing at birth).

The information in this leaflet is drawn from the published medical literature and from Unique ’s database. At the time of compiling the information, Unique had 53 members with a 7q deletion, 35 of them with a simple deletion of 7q that did not involve any other chromosome.

Some people with a 7q36 deletion have narrowed structures in the mid face, mouth, nose and throat areas. This can result in a high palate and affect the quality of sounds, typically making speech nasal. Additionally, many children with poor muscle control in the face and tongue have difficulty forming particular speech sounds. 7