Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone Deficiency

Durmaz C. D., ALTINER Ş., Tasdelen E., KARABULUT H. G., ILGIN RUHİ H.

FETAL AND PEDIATRIC PATHOLOGY, vol.40, no.5, pp.486-492, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 40 Issue: 5
  • Publication Date: 2021
  • Doi Number: 10.1080/15513815.2019.1710789
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Page Numbers: pp.486-492
  • Keywords: 17q22 contiguous microdeletion syndrome, multiple congenital anomalies, cryptic genomic imbalances, growth hormone deficiency, DE-NOVO, REARRANGEMENTS, DATABASE
  • Hacettepe University Affiliated: No


Background: The 17q22 contiguous microdeletion syndrome is a recently described chromosomal disorder. Clinical features are heterogeneous because of variable deletion sizes. Clinical report: We present a child with delayed psychomotor development, dysmorphic features (prominent posterior rotated ears, upturned nose, thin upper lip, smooth philtrum, high palate), vesicoureteral reflux and growth hormone deficiency. 1.53 Mb loss at the 17q22 chromosome region in the proband was the responsible for the phenotype. Conclusion: In the few cases of interstitial 17q22 deletion in the literature, this is the first with growth hormone deficiency. This may contribute to the phenotypic spectrum of 17q22 microdeletion syndrome. As the reported cases increase, we believe that genotype-phenotype correlation will be better illuminated.