ISSN 2149-2247 | E-ISSN 2149-2549
Case Report
Holoprosencephaly: A Rare Finding in Mosaic Trisomy 9 Syndrome
1 Department of Medical Genetics, Gazi University Faculty of Medicine, Ankara, Turkey  
2 Department of Perinatology, Gazi University Faculty of Medicine, Ankara, Turkey  
Erciyes Med J 2018; 40: 54-56
DOI: 10.5152/etd.2018.17094
Key Words: Holoprosencephaly, mosaic trisomy 9, PTCH1


Mosaic trisomy 9 syndrome is a rare chromosomal abnormality and is well defined with dysmorphologic features such as upslanting and short palpebral fissures; deeply set eyes; micrognathia; and cardiovascular, genital, and brain abnormalities. Holoprosencephaly, a developmental brain abnormality, is a rarely seen in patients with mosaic trisomy 9 syndrome. Here we present a case of a patient with mosaic trisomy 9 syndrome with alobar type holoprosencephaly who died in the first hour of the natal period. As per the literature, this is the third case of mosaic trisomy 9 with holoprosencephaly to be reported. Therefore, we believe that holoprosencephaly might take part among the classic dysmorphic features of mosaic trisomy 9 syndrome.


Cite this article as: Mermer S, Özek M, Perçin F, Karaoğuz M, Bayram M. Holoprosencephaly: A rare finding in mosaic trisomy 9 syndrome. Erciyes Med J 2018; 40(1): 54-6.

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