Holoprosencephaly: A Rare Finding in Mosaic Trisomy 9 Syndrome


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Mermer S., Ozek M., Percin F. E. , YİRMİBEŞ KARAOĞUZ M. , BAYRAM M.

ERCIYES MEDICAL JOURNAL, cilt.40, sa.1, ss.54-56, 2018 (ESCI İndekslerine Giren Dergi) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 40 Konu: 1
  • Basım Tarihi: 2018
  • Doi Numarası: 10.5152/etd.2018.17094
  • Dergi Adı: ERCIYES MEDICAL JOURNAL
  • Sayfa Sayıları: ss.54-56

Özet

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.