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., ...More

TURKISH JOURNAL OF PEDIATRICS, vol.64, no.1, pp.171-178, 2022 (SCI-Expanded) identifier identifier identifier identifier

  • Publication Type: Article / Review
  • Volume: 64 Issue: 1
  • Publication Date: 2022
  • Doi Number: 10.24953/turkjped.2021.685
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.171-178
  • Keywords: 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 University Affiliated: Yes

Abstract

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.