45,X/46,X,psu idic(Y)(q11.2) in a phenotypically normal male with short stature: a case report
| العنوان: | 45,X/46,X,psu idic(Y)(q11.2) in a phenotypically normal male with short stature: a case report |
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| المؤلفون: | Maki Fukami, Atsushi Hattori, Mihoko Yamaguchi, Satoshi Miyagaki, Yasuhiro Kawabe, Takeshi Ota, Jun Mori, Hidechika Morimoto |
| المصدر: | Clinical Pediatric Endocrinology |
| بيانات النشر: | Japanese Society for Pediatric Endocrinology, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Urethroplasty, medicine.medical_treatment, Genital anomalies, Case Report, 030209 endocrinology & metabolism, Y chromosome, Short stature, Y chromosome deletion, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Chromosome analysis, Medicine, 030212 general & internal medicine, Gynecology, business.industry, 46,X,psu idic(Y)(q11.2)/45,X,idic(Y), Bone age, Radiological examination, short stature, Pediatrics, Perinatology and Child Health, growth-control gene, medicine.symptom, business, Comparative genomic hybridization |
| الوصف: | We report a case of 15-yr-old phenotypically normal male with short stature associated with the chromosomal abnormalities of 46,X,psu idic(Y)(q11.2)/45,X. At 3 yr of age, he underwent urethroplasty for scrotal hypospadias. At 15 yr of age, he was referred to our hospital due to short stature (–3.71 SD). The results of blood examination were mostly normal. A radiological examination revealed his bone age was 15.7 yr (based on the TW2-RUS method). Chromosome analysis of peripheral lymphocytes revealed 46,X,psu idic(Y)(q11.2)[16]/45,X[14], and array comparative genomic hybridization (aCGH) showed a large deletion of Yq which was located distal to the Y chromosome growth-control gene (GCY) region. It is likely that these structural abnormalities in the Y chromosome were responsible for the short stature. This case might provide new insights regarding GCY and emphasizes the importance of chromosome analysis in not only females but also males with short stature, especially when associated with genital anomalies. |
| تدمد: | 1347-7358 0918-5739 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f5116b14ee5b8a9da2c1e7ffe0e8123 https://doi.org/10.1297/cpe.29.189 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....7f5116b14ee5b8a9da2c1e7ffe0e8123 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 13477358 09185739 |
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