HOLOPROSENCEPHALY: CHROMOSOMAL ABNORMALITIES IN THE ETIOPATHOGENESIS OF 127 ANTENATAL CASES

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KARAMAN B., Ergin S., Kayserili H., YÜKSEL A., Satkin N. B., KALELİOĞLU İ. H., ...Daha Fazla

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, cilt.84, sa.2, ss.186-191, 2021 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 84 Sayı: 2
  • Basım Tarihi: 2021
  • Doi Numarası: 10.26650/iuitfd.2020.0071
  • Dergi Adı: JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.186-191
  • Anahtar Kelimeler: Holoprosencephaly, HPE, #MIM 236100, nervous system malformations, prenatal diagnosis, SONIC-HEDGEHOG, PRENATAL-DIAGNOSIS, MUTATIONS, PHENOTYPE, ZIC2, EPIDEMIOLOGY, INDIVIDUALS, GENETICS, SPECTRUM, TRISOMY
  • İstanbul Üniversitesi Adresli: Evet

Özet

Objective: Holoprosencephaly (HPE, #MIM 236100) is the most common developmental defect of midline cleavage in the human forebrain. Environmental, genetic, and multifactorial causes are involved in its etiology. About half of the cases have chromosome aberrations such as trisomies 13 and 18, triploidy and structural imbalances. Single gene mutations have been shown in similar to 25% of cases. In this retrospective study, we aimed to determine the etiological factors related to HPE in 127 fetuses.