KBG Syndrome: a de novo chromosomal rearrangement in prenatal diagnosis beyond conventional cytogenetics

Carvalho, I.; Freixo, J.P.; Cruz, J.; Oliveira, N.; Marques, B.; Correia, H.; Morton, C.; David, D.

http://hdl.handle.net/10400.18/5493

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Introduction: KBG syndrome (OMIM #148050) is a rare disorder characterized by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal anomalies, short stature and developmental delay. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Although this is an autosomal dominant condition predominant maternal inheritance, mainly due to a milder clinical manifestation in females, is frequently observed. Pathogenic alterations, mainly truncating point mutations and microdeletions, leading to haploinsufficiency of ANKRD11, have been described to be the molecular basis of this syndrome.