Częściowa monosomia ramienia krótkiego chromosomu 9 u siedmiomiesięcznej dziewczynki - opis przypadku

Numerical and structural chromosome aberrations are one of the causes of congenital abnormalities and mental retardation in children. Particular syndromes occur rarely and may prove to be a diagnostic dilemma. The authors present a case of a seven-month-old girl referred to a Genetic Clinic due to dysmorphic features suggestive of Down's syndrome, who has been finally diagnosed with monosomy 9p syndrome. The deletion occurred de novo. The phenotypic features of the preposita are discussed in the context of existing literature. Dysmorphic features, congenital abnormalities, and mental retardation are indications for referral to genetic counselling.