Familial short stature due to a 5q22.1–q23.2 duplication refines the 5q duplication spectrum

We identified a maternally inherited 14.2 Mb duplication 5q22.1–q23.2 in two female siblings and their mother by molecular karyotyping. Both siblings were small for gestational age and presented with pronounced postnatal growth retardation, mild motor delay, congenital heart disease in one of the siblings, and distinct facial dysmorphism. As this duplication is one of the smallest reported 5q duplications, short stature and facial dysmorphism can be attributed to duplications of 5q22, whereas severe mental retardation is not part of the phenotypic spectrum of the 5q22.1–q23.2 region. Congenital heart defects, as observed in other 5q duplications, have a variable penetrance. We compared the facial features of patients with 5q duplications and found some consistent features such as high arched eyebrows, bulbous nasal tip and small lips with thin vermilion border.

► We characterised the phenotype of an inherited 14.2 Mb duplication 5q22.1–q23.2.
► This duplication affects in part the category A region of 5q duplications.
► Consistent features are short stature and facial anomalies.
► The latter are arched eyebrows, bulbous nasal tip and lips with thin vermilion border.
► Congenital heart defects have a variable penetrance.