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Intellectual disability (ID) is a non-specific phenotype present in a genetically heterogeneous group of disorders. The genetic cause of ID remains elusive in the majority of patients due to this extreme heterogeneity. Whole exome sequencing technology has been applied to identify pathogenic gene variants responsible for ID. The present report described a 1.7-year-old female patient who had severe ID with the specific features of delayed motor development, language disorders and abnormal facial features. Exome analysis identified a novel pathogenic variant of the SETD5 gene [c.2025_2026delAG (p.Gly676Valfs*2)]. The variant was a frameshift mutation, causing termination of the protein in advance. These findings indicated that this mutation of the SETD5 gene may be a genetic cause for ID. The present study aimed to provide a meaningful exploration of ID and the identification of clinical core genetic pedigrees. [ABSTRACT FROM AUTHOR]

Primary carcinoma of the Bartholin's gland (BG) is a rare malignancy. There are extremely rare cases of small cell neuroendocrine carcinoma (SCNC) of the BG reported in the English literature. A postmenopausal female presented with a 1‑month history of increasing pain and swelling on the left vulva consistent with spontaneously bleeding. Pathology identified SCNC that arose in BG. The patient was treated with a radical wide local excision and bilateral inguinal lymph node dissection followed by six courses of chemotherapy. One month after primary treatment, without any pelvic recurrence or abnormal tumor markers indications, distant metastasis of the liver was diagnosed and VI hepatic lobectomy was performed. The patient maintained regular adjuvant chemotherapy every month under outpatient surveillance and has no local recurrence or distant metastasis. [ABSTRACT FROM AUTHOR]