Physical Characteristics of Chromosome 15q Duplication Syndrome

Traditional medical photographic images of people with chromosome disorders are sadly negative — with little opportunity to celebrate the beauty and diversity of affected individuals. On this page, IDEAS presents images of individuals with chromosome 15q duplication syndrome. Through these images, you will gain an appreciation for the subtle physical characteristics in this disorder, along with the beauty and joy in each child.

Characteristic Physical Findings
Unlike many other chromosomal syndromes, there are few characteristic physical findings associated with chromosome 15q syndrome. The physical findings are fairly non-specific and may include the following:

Facial Characteristics
Many children with dup15q share similar facial characteristics. These include a flat nasal bridge which gives them a 'button' nose.

There may be skin folds, called 'epicanthi' or epicanthal folds, at the inner corners of the eyes, and the eyes may be deep set.

Ears may be low-set and/or posteriorly rotated.

There may also be noticeable unfolding of the edge of the ears.

Skin Pigmentation
Affected individuals may have Increased or Reduced Skin Pigmentation
Seen on the backs of the arms and legs in the pictures below

Growth
Short Stature:  Growth is retarded in about 20 – 30% of individuals with dup15q.