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Article

Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone Deficiency.

Fetal and pediatric pathology - 1 Oct 2021

Durmaz Ceren Damla, Altıner Şule, Taşdelen Elifcan, Karabulut Halil Gürhan, Ruhi Hatice Ilgın

Abstract excerpt

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...

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PMID: 31997693
DOI: 10.1080/15513815.2019.1710789

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