WordNet

the act of deleting something written or printed
the omission that is made when an editorial change shortens a written passage; "an editors deletions frequently upset young authors"; "both parties agreed on the excision of the proposed clause" (同)excision, cut
(genetics) the loss or absence of one or more nucleotides from a chromosome
a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
a threadlike strand of DNA in the cell nucleus that carries the genes in a linear order; "humans have 22 chromosome pairs plus two sex chromosomes"

PrepTutorEJDIC

削除;〈C〉削除箇所
(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
染色体

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1. 先天性の細胞遺伝学的異常 congenital cytogenetic abnormalities
2. 微細欠失症候群（12番～22番染色体） microdeletion syndromes chromosomes 12 to 22
3. 萎縮性毛孔性角化症 keratosis pilaris atrophicans
4. 毛孔性角化症 keratosis pilaris
5. 幼児および小児における小頭症：病因および評価 microcephaly in infants and children etiology and evaluation

English Journal

Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review.

Chen CP1, Chang TY, Guo WY, Wu PC, Wang LK, Chern SR, Wu PS, Su JW, Chen YT, Chen LF, Wang W.Author information 1Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com.AbstractWe report a molecular cytogenetic characterization of 17p13.3 deletion syndrome by array comparative genomic hybridization (aCGH), fluorescence in situ hybridization (FISH) and quantitative polymerase chain reaction (qPCR) in a fetus with lissencephaly, corpus callosum dysgenesis, ventriculomegaly, microcephaly, intrauterine growth restriction (IUGR), polyhydramnios and single umbilical artery. aCGH analysis revealed a 3.17-Mb deletion at 17p13.3, or arr [hg19] 17p13.3 (0-3,165,530)×1. The qPCR assays revealed a maternal origin of the deletion. Metaphase FISH analysis detected the absence of the LIS1 probe signal on the aberrant chromosome 17. The karyotype was 46,XX,del(17)(p13.3). We review the literature of chromosome 17p13.3 deletion syndrome with prenatal findings and diagnosis, and suggest that prenatal ultrasound detection of central nervous system anomalies such as lissencephaly, corpus callosum dysgenesis/agenesis, ventriculomegaly and microcephaly associated with IUGR, polyhydramnios, congenital heart defects, abdominal wall defects and renal abnormalities should include a differential diagnosis of chromosome 17p13.3 deletion syndrome.
Gene.Gene.2013 Dec 10;532(1):152-9. doi: 10.1016/j.gene.2013.09.044. Epub 2013 Sep 19.
We report a molecular cytogenetic characterization of 17p13.3 deletion syndrome by array comparative genomic hybridization (aCGH), fluorescence in situ hybridization (FISH) and quantitative polymerase chain reaction (qPCR) in a fetus with lissencephaly, corpus callosum dysgenesis, ventriculomegaly,
PMID 24055730

[A male case of subcortical band heterotopia with somatic mosaicism of DCX mutation].

Igarashi A1, Kawatani M, Ohta G, Kometani H, Ohshima Y, Kato M.Author information 1Department of Pediatrics, Faculty of Medical Sciences, University of Fukui, Fukui.AbstractThis report describes a male case of subcortical band heterotopia (SBH) with somatic mosaicism of doublecortin (DCX) mutation. His brain MRI revealed bilateral SBH with anterior dominant pachygyria. Although he had infantile spasms from 5-months old and showed mild developmental delay, he responded well to vitamin B6 and ACTH therapy. We conducted DCX mutation analysis using peripheral blood lymphocytes of the proband and his parents. Only the present case showed the mixture pattern of missense mutation (c. 167 G>C) and normal sequence of DCX gene indicating that the present case resulted from somatic mosaicism of de novo DCX mutation. Male patients with DCX mutations generally present with the classical type of lissencephaly, severe developmental delay, and intractable epilepsy. However, somatic mosaic mutation of DCX can lead to SBH in males.
No to hattatsu. Brain and development.No To Hattatsu.2013 Sep;45(5):371-4.
This report describes a male case of subcortical band heterotopia (SBH) with somatic mosaicism of doublecortin (DCX) mutation. His brain MRI revealed bilateral SBH with anterior dominant pachygyria. Although he had infantile spasms from 5-months old and showed mild developmental delay, he responded
PMID 24205692

Somatic mutation, genomic variation, and neurological disease.

Poduri A1, Evrony GD, Cai X, Walsh CA.Author information 1Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.AbstractGenetic mutations causing human disease are conventionally thought to be inherited through the germ line from one's parents and present in all somatic (body) cells, except for most cancer mutations, which arise somatically. Increasingly, somatic mutations are being identified in diseases other than cancer, including neurodevelopmental diseases. Somatic mutations can arise during the course of prenatal brain development and cause neurological disease-even when present at low levels of mosaicism, for example-resulting in brain malformations associated with epilepsy and intellectual disability. Novel, highly sensitive technologies will allow more accurate evaluation of somatic mutations in neurodevelopmental disorders and during normal brain development.
Science (New York, N.Y.).Science.2013 Jul 5;341(6141):1237758. doi: 10.1126/science.1237758.
Genetic mutations causing human disease are conventionally thought to be inherited through the germ line from one's parents and present in all somatic (body) cells, except for most cancer mutations, which arise somatically. Increasingly, somatic mutations are being identified in diseases other than
PMID 23828942

Japanese Journal

Novel Deletion on the Short Arm of Chromosome 17 in a Patient With Multiple Cardiac Anomalies

Kowase Keiko,Nakamura Tetsuya,Okumura Wataru,Okamoto Eiichi,Yamaguchi Etsuo,Sato Hideki,Arai Masashi,Imai Susumu,Hasegawa Akira,Nagai Ryozo
Japanese circulation journal 61(10), 882-885, 1997-09-20
… The short arm of chromosome 17 was slightly elongated owing to the deletion of the distal portion of that chromosome and the addition of extra material from another chromosome. … Miller-Dicker syndrome is characterized by a patent ductus arteriosus, lissencephaly, and the deletion of chromosome 17p13.3; …
NAID 110002622507

「ミラー・ディーカー症候群」

　　[★]

英: Miller-Dieker syndrome, MDS
同: 脳回欠損症候群 lissencephaly syndrome、ミラー-ディーカー症候群 Miller-Dieker症候群、ミラー・ディーカー脳回欠損症候群 Miller-Dieker lissencephaly syndrome MDLS、chromosome 17p13.3 deletion syndrome

概念

滑脳症に加え、多くの奇形を合併した症候群である。ニューロンの移動の障害が本態である。
実際には有病率と罹患率はもっと高いが、10万出生に1例という推計があるまれな疾患である。MDS児は重度の発達遅延があり、ふつうはてんかんや哺乳に問題を抱えているのが一般的である。
LTS1遺伝子を含む17p13.3の欠失がほぼ100%の患者にみられる。また常染色体優性遺伝する。
治療は対症療法である。