Department of Medical Genetics, Ankara University School of Medicine, Ankara, Turkey.
Department of Medical Genetics, Trabzon Kanuni Training and Research Hospital, University of Health Sciences, Trabzon, Turkey.
Fetal Pediatr Pathol. 2021 Oct;40(5):486-492. doi: 10.1080/15513815.2019.1710789. Epub 2020 Jan 30.
The 17q22 contiguous microdeletion syndrome is a recently described chromosomal disorder. Clinical features are heterogeneous because of variable deletion sizes. 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. : 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.
17q22 连续微缺失综合征是一种最近描述的染色体疾病。由于缺失大小的不同，临床表现存在异质性。我们介绍了一个患有精神运动发育迟缓、发育异常（突出的后旋耳、上翘的鼻子、薄上唇、光滑人中、高腭）、膀胱输尿管反流和生长激素缺乏的儿童。先证者在 17q22 染色体区域缺失 1.53Mb，导致了表型。在文献中报道的少数 17q22 染色体片段缺失病例中，这是首例伴有生长激素缺乏的病例。这可能有助于阐明 17q22 微缺失综合征的表型谱。随着报道病例的增加，我们相信基因型-表型相关性将得到更好的阐明。
