A very rare case of a newborn with tetrasomy 9p and literature review

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SÜLEYMAN M., OĞUZ S., KAYKI G., ÇELİK H. T., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.64, sa.1, ss.171-178, 2022 (SCI-Expanded) identifier identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 64 Sayı: 1
  • Basım Tarihi: 2022
  • Doi Numarası: 10.24953/turkjped.2021.685
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.171-178
  • Anahtar Kelimeler: tetrasomy 9p, isochromosome, mosaicism, tetralogy of Fallot, cardiac manifestations, MULTIPLE CONGENITAL-ANOMALIES, DANDY-WALKER MALFORMATION, PRENATAL-DIAGNOSIS, SHORT ARM, MOSAICISM, INFANT, FETUS, DELINEATION, CHROMOSOME, CHILD
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Background. Tetrasomy 9p is a rare genetic condition which usually results from a supernumerary isochromosome derived from the short arm of chromosome 9. Phenotypic findings include multiple congenital anomalies, facial dysmorphism, growth and developmental delays, and also vary according to the presence and degree of mosaicism.