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Filippi syndrome is a rare genetic disorder characterized by growth and neurodevelopmental delays, dysmorphism, and selective limb abnormalities. Although the syndrome was described approximately four decades ago, only a few families with molecularly confirmed diagnoses have been reported. In this article, we present three new patients of Filippi syndrome with unusual clinical and genetic aspects. These patients exhibited novel clinical features that have not previously been associated with Filippi syndrome, including renal hypoplasia/aplasia, renal cysts, renal cortical thinning, hypomelanotic, and hypermelanotic macules. All three patients had homozygous frameshift variants of the CKAP2L gene, specifically NM_152515.3: c.554_555del, c.981_982del, and c.1463_1467del, with the second being a novel variant. Given the limited number of reported Filippi syndrome patients to date and the ongoing discovery of new clinical aspects of the disease, exploring its potential connection with kidney and skin pigmentation abnormalities could be valuable for future research. [ABSTRACT FROM AUTHOR]

Background/Aim: Microarray analysis is the first recommended test in patients with intellectual disability, developmental delay, autistic spectrum disorder, and multiple congenital anomalies. Diagnostic rate of microarray analysis and the frequency of recurrent microdeletion/microduplications in Turkish patients with neurodevelopmental disorders and/or multiple congenital anomalies have been reported as 15-18% and 6%, respectively. In the current study, it is aimed to determine the diagnostic rate of microarray analysis and the frequency of recurrent syndromes in this patient group, to discover new chromosomal regions responsible for the disease and to contribute to the genotype-phenotype correlation. Methods: In this study, microarray results of 320 Turkish pediatric patients who applied to Medical Genetics outpatient clinic with intellectual disability, developmental delay and/or multiple congenital anomalies are presented. Results: Pathogenic/likely pathogenic copy number alterations were detected in 44 patients. Of these changes, 22 were known microdeletion/microduplication syndromes. The diagnostic rate of microarray analysis was 13.75% (44/320) and the rate of known microdeletion/microduplication syndromes was 6.8% (22/320), which were close to the data in the literature. In a patient with macrocephaly, ptosis, and psychomotor retardation, we detected duplication of 2p23.3 encompassing the ASXL2 gene. This may suggest that increased copies of this region may cause a phenotype similar to Shashi-Pena Syndrome. In one patient, Xq13.2q13.3 deletion was found to cause severe findings in female gender, although it contains the same genes as the Xq13 duplication syndrome, in which carrier females are unaffected. In another patient, deletion of the HMGB3 gene located in the Xq28 region was found to cause ptosis clinic and effect female gender. Conclusion: This study shows that microarray analysis is a good option as the first test in patients with developmental delay and/or multiple congenital anomalies. In addition, the current study is expected to contribute to the genotype-phenotype correlation in this patient group. [ABSTRACT FROM AUTHOR]

Melanomas presenting in primary or metastatic sites with a poorly differentiated histology comprise dedifferentiated (DM) and undifferentiated melanomas (UM), the latter consisting purely of undifferentiated cells and totally lacking immunophenotypic features of melanoma. These entities have a wide morphological spectrum including round cell sarcoma-like features which pose a significant diagnostic challenge. Here we present a case of UM with morphological and immunohistochemical features resembling undifferentiated round cell sarcoma, whose diagnosis could only be established after proper integration of clinical and molecular data. This diagnostically challenging case, fulfilling the previously proposed diagnostic criteria by Agaimy et al, expands the clinicopathological spectrum of DM/UM, highlights the essence of molecular signature, and further emphasizes the importance of patient's history in any morphological setting. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

An abstract of the article "A Case of Pycnodysostosis with Bilateral Choanal Atresia," by Ceren Damla Durmaz and colleagues is presented.