trisomy 13q

13qトリソミー

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• 1. 慢性リンパ性白血病の病態生理および遺伝学的特徴 pathophysiology and genetic features of chronic lymphocytic leukemia
• 2. 染色体モザイク（伊藤白斑） pigmentary mosaicism hypomelanosis of ito
• 3. 慢性リンパ性白血病の病期分類および予後 staging and prognosis of chronic lymphocytic leukemia
• 4. 原発性骨髄線維症における病態 pathogenetic mechanisms in primary myelofibrosis
• 5. 視神経の先天性および後天性異常 congenital anomalies and acquired abnormalities of the optic nerve

English Journal

• [Cytogenetic and molecular genetic diagnosis of a neonate with partial 13q trisomy and partial 5p monosomy].

• Xiao W1, Gao Z, Meng Q, Zhang M.
• Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.Zhonghua Yi Xue Yi Chuan Xue Za Zhi.2014 Dec;31(6):747-9. doi: 10.3760/cma.j.issn.1003-9406.2014.06.014.
• OBJECTIVE: To diagnose a neonate presenting with multiple dysmorphic features, Cri-du-chat signs and hypoglycemia and to correlate the phenotype with the genotype.METHODS: The patient was diagnosed with conventional cytogenetics and real-time fluorescence quantitative PCR (QF-PCR). The phenotype was
• PMID 25449080

• Mild phenotype of a large partial 13q trisomy.

• Krygier M1, Lipska-Zietkiewicz BS, Koczkowska M, Wierzba J, Limon J.
• Clinical dysmorphology.Clin Dysmorphol.2014 Oct;23(4):155-7. doi: 10.1097/MCD.0000000000000052.
• PMID 25144153

• Molecular and cytogenetic evaluation of a patient with ring chromosome 13 and discordant results.

• Kaylor J1, Alfaro M, Ishwar A, Sailey C, Sawyer J, Zarate YA.
• Cytogenetic and genome research.Cytogenet Genome Res.2014;144(2):104-8. doi: 10.1159/000368649. Epub 2014 Nov 6.
• We describe the case of a male newborn with ring chromosome 13 found to have dysmorphic features, growth retardation, imperforate anus, and ambiguous genitalia. An initial karyotype showed 46,XY,r(13)(p13q34) in the 30 cells analyzed. SNP microarray from peripheral blood revealed not only an 8.14-Mb
• PMID 25377780

Japanese Journal

• 不妊治療による46,XY,t(12;13)(q24.3;q32)の父親からの3胎

• 園田 徹,金子 政時,鮫島 浩 [他],池ノ上 克,河野 慶一郎
• 九州保健福祉大学研究紀要 (7), 169-172, 2006-03
• … Her karyotype was 46,XX,der(12)t(12;i3) (q24.3;q32)pat, and she had a partial trisomy for 13q32→qter. …
• NAID 110006203441

• 手足の異常を伴わない46,XY,dup(13)(q31.2-qter)の1例

• 園田 徹,小泉 博彦,久保 尚美 [他],高木 純一,原田 直樹,松本 直通
• 九州保健福祉大学研究紀要 (6), 189-192, 2005-03
• … 5pter→p15.33の部分欠失と13q31.2→qterの部分重複を併せ持つ症例を報告する。 …
• NAID 110004633163

• Perinatal findings of partial trisomy 13q (13q14.1->qter) resulting from paternal pericentric inversion of chromosome 13

• CHEN CP
• Prenat. Diagn. 25, 527-528, 2005
• NAID 30010333990

Related Links

• Partial trisomy 13q - RightDiagnosis.com - Right Diagnosis

Partial trisomy 13q symptoms, causes, diagnosis, and treatment information for Partial trisomy 13q (Chromosome 13q duplication syndrome) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments ...

• Chromosome 13q trisomy - Conditions - GTR - NCBI

Duplication of the long arm of chromosome 13 with retarded development and craniofacial, neurological, and other abnormalities. ... IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on ...