OBJECTIVETo investigate clinical phenotype and genetic characteristics of a 30-year-old infertile female carrying a mosaic ring 21 chromosome.

METHODSA combination of techniques including G-banding, C-banding, fluorescence in situ hybridization (FISH) and SNP array were performed to investigate the breaking point of the r(21).

RESULTSThe karyotype of the patient was mos 46,XX,r(21)[166]/46, XX,der(21)[60]/45, XX, -21[20]/46, XX,dic r(21)[4].ish del(21)(q22.2?)(21qter-, AML1+, D21S259/D21S341/D21S342+). arr 21q22.3(43 457 934-48 093 361) × 1, 21q22.2q22.3(40 218 429-43 457 934)× 1-2. The karyotypes of her parents were both normal.

CONCLUSIONClinical phenotypes of patients carrying a ring 21 mainly depends on the percentage of abnormal cells and the deleted chromosomal fragment. The small uterus and oligomenorrhea in our patient may be attributed to the mosaic ring 21 chromosome.

Adult ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 21 ; genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Infertility, Female ; diagnosis ; genetics ; Karyotyping ; Ring Chromosomes

OBJECTIVE: To analyze the clinical and genetic characteristics of a 46,XX case of testicular disease with prostate germ cell tumor and explore its pathogenesis. METHODS: The clinical features and pathological examination of the patient were reviewed, and the genetic basis was analyzed by chromosome karyotyping analysis and fluorescence in situ hybridization. RESULTS: The patient had slightly short stature, small testicles and large breast. Serum alpha fetoprotein was significantly increased, along with increased follicle stimulating hormone, luteinizing hormone and prolactine, and lower level of testosterone. The karyotype was 46,XX. Fluorescence in situ hybridization has identified the presence of SRY gene at the end of short arm of one X chromosome. The pathological diagnosis was primary germ cell tumor of prostate, mainly of yolk sac tumor type. CONCLUSION A rare case of 46,XX testicular disorder of sex development combined with germ cell tumor of the prostate was diagnosed, which has enriched the phenotype spectrum of the disease and provided clues for the treatment of the disease.
Humans ; In Situ Hybridization, Fluorescence ; Male ; Neoplasms, Germ Cell and Embryonal/genetics* ; Prostate ; Sexual Development ; Testicular Diseases

Objective:To investigate the value of CT tumor-thyroid marginal contact range (MCR) for predicting capsular invasion and cervical lymph node metastasis in papillary thyroid carcinoma (PTC) with a diameter>1.0 cm and papillary thyroid microcarcinomas (PTMC) with a diameter ≤ 1.0 cm, and to evaluate the diagnostic efficacy of direct CT signs for lymph node metastasis.Methods:The CT data of 148 patients with PTC (>1.0 cm) and 193 patients with PTMC confirmed by surgery and pathology were retrospectively analyzed from January 2017 to April 2020 at Hangzhou First People′s Hospital. MCR was evaluated based on CT images and classified as<1/4 tumor circumference or ≥1/4 tumor circumference. Direct CT signs of cervical lymph nodes were observed, including cystic change, microcalcification, hyperenhancement, short/long diameter≥0.5, clustered lymph nodes or central area turbidity. The difference in the distribution of MCR between PTC (>1.0 cm) and PTMC was compared using the χ 2 test, and the efficiency of MCR and direct CT signs for diagnosing capsular invasion and lymph node metastasis was calculated using the pathological results as the gold standard. Results:In 148 PTC (>1.0 cm) and 193 PTMC patients, the pathological results showed capsular invasion in 88.5% (131/148) and 57.0% (110/193), and lymph node metastasis in 71.6% (106/148) and 44.0% (85/193), respectively. In PTC (>1.0 cm) patients, MCR≥1/4 tumor circumference was more common in patients with capsular invasion (χ2=22.211, P<0.001) and lymph node metastasis (χ2=4.746, P=0.029), and the corresponding sensitivity and specificity for predicting capsular invasion and lymph node metastasis were 84.7% (111/131) and 64.7% (11/17), 83.0% (88/106) and 33.3% (14/42), respectively. In PTMC patients, MCR≥1/4 tumor circumference was more common in patients with capsular invasion (χ2=66.066, P<0.001) and lymph node metastasis (χ2=5.343, P=0.021), and its sensitivity and specificity for predicting capsular invasion and lymph node metastasis were 87.3% (96/110) and 69.9% (58/83), 71.8% (61/85) and 44.4% (48/108), respectively. The sensitivity and specificity of direct CT signs for diagnosing lymph node metastasis in PTC (>1.0 cm) and PTMC were 89.6% and 73.8%, 69.4% and 76.9%, respectively. Conclusions:Both direct CT signs and MCR ≥ 1/4 tumor circumference can predict cervical lymph node metastasis in PTC patients, and the former had higher sensitivity and specificity. MCR≥1/4 tumor circumference has high efficiency for predicting capsular invasion in PTC patients.