6qトリソミー
WordNet
- chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell
UpToDate Contents
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English Journal
- A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction.
- Landais E1,2, Leroy C1,3, Kleinfinger P4, Brunet S1, Koubi V5, Pietrement C6, Poli-Mérol ML3,7, Fiquet C7,8, Souchon PF6, Beri M9, Jonveaux P9, Garnotel R10, Gaillard D1,3, Doco-Fenzy M1,8.
- American journal of medical genetics. Part A.Am J Med Genet A.2015 Jun;167(6):1275-84. doi: 10.1002/ajmg.a.36995. Epub 2015 Apr 21.
- Familial transmission of chromosome 6 duplications is rare. We report on the first observation of a maternally-inherited pure segmental 6q duplication split into two segments, 6q15q16.3 and 6q16.3q21, and associated with obesity. Obesity has previously been correlated to chromosome 6 q-arm deletion
- PMID 25900228
- Pure interstitial dup(6)(q22.31q22.31) - a case report.
- Sheth F1, Trivedi S2, Andrieux J3, Blouin JL4, Sheth J5.
- Italian journal of pediatrics.Ital J Pediatr.2015 Jan 31;41:5. doi: 10.1186/s13052-015-0113-y.
- 'Pure' interstitial duplication of chr6q is rare. The varying size of duplication encompassing 6q22.31 is associated with the expressivity of dysmorphism and autism. Here, we report a unique case with facial dysmorphism, developmental delay, complex neurological impairment and spasticity unrelated t
- PMID 25637059
- Prenatal diagnosis of a partial 6q trisomy: a case report.
- Valerio D1, Di Domenico A, Felicetti M, La Boccetta A, Ferrara C, Antonio N, Borrelli AL.
- Prenatal diagnosis.Prenat Diagn.2006 Oct;26(10):917-9.
- OBJECTIVE: To present a case of partial 6q trisomy diagnosed prenatally.METHOD: A 28-year-old woman underwent genetic amniocentesis at 23 weeks of gestation on the detection of an enlarged nuchal fold (8.5 mm), which was the only clinical abnormality on routine ultrasound examination. Fetal karyotyp
- PMID 16845680
Japanese Journal
- Autosomal recessive juvenile Parkinson's disease with partial Trisomy of chromosome 6q syndrome : A case report
- NAMIHIRA TOMOO,HATTORI NOBUTAKA,SHIROMA SEIGO,MIYAZATO YOSHIKAZU
- Psychiatry and clinical neurosciences 58(6), 672-673, 2004-12-01
- NAID 10016210318
- B-02 Sexual Ambiguity in a Newborn Boy with a de novo Trisomy 6q.
- NARAHARA K.,TERAOKA M.,KASAI R.,YOKOYAMA Y.,KAWAI N.,UBUKA K.,SEINO Y.
- Congenital anomalies 38(3), 313-314, 1998-09-30
- NAID 110002788098
- 畠 亮,馬場 志郎,斉藤 史郎,橘 政昭,出口 修宏,実川 正道,田崎 寛
- 日本泌尿器科學會雜誌 81(9), 1389-1395, 1990-09-20
- … 中6例に認めた.染色体の構造異常は数の異常と比べて出現頻度は少なく,クローン性異常は#2と#6染色体の長腕異常(2q^+,6q^+)と#3と#8染色体の短腕異常(3p^-,8p^-)をそれぞれ1例ずつ認めるのみであった.文献上多いとされる3p^-は1例のみで,しかもtriploid細胞で観察したものである.ただし,2q^+と6q^+を示す分裂細胞は全て#3染色体のモノソミーを随伴していた.しかも#2,#6染色体の過剰部は#3染色体長腕のバンドパタ …
- NAID 110003085599
Related Links
- Chromosome 6, Partial Trisomy 6q is an extremely rare chromosomal disorder in which a portion of the 6th chromosome (6q) is present three times (trisomy) rather than twice in cells of the body. Associated symptoms and findings ...
- Trisomy 6q symptoms, causes, diagnosis, and treatment information for Trisomy 6q (Chromosome 6, trisomy 6q) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments, prevention, and prognosis. ...
★リンクテーブル★
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- 英
- trisomy 6q
- 関
- 6番染色体