Killian syndrome

パリスター・キリアン症候群。キリアン症候群

WordNet

1. a pattern of symptoms indicative of some disease
2. a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

1. (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

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• 1. 先天性の細胞遺伝学的異常 congenital cytogenetic abnormalities
• 2. 小頭症に対する臨床遺伝学的アプローチ microcephaly a clinical genetics approach
• 3. 精巣腫瘍の解剖学および病理 anatomy and pathology of testicular tumors
• 4. 先天性横隔膜ヘルニア：出生前診断およびマネージメント congenital diaphragmatic hernia prenatal diagnosis and management
• 5. 縦隔および後腹膜を含む性腺外胚細胞腫瘍 extragonadal germ cell tumors involving the mediastinum and retroperitoneum

English Journal

• The genetics of common disorders - Congenital diaphragmatic hernia.

• Slavotinek AM.
• European journal of medical genetics.Eur J Med Genet.2014 Aug;57(8):418-23. doi: 10.1016/j.ejmg.2014.04.012. Epub 2014 May 2.
• Congenital diaphragmatic hernia (CDH) is a common birth defect with a high mortality and morbidity. Although numerous chromosomal aberrations and gene mutations have been associated with CDH, the etiology of the diaphragmatic defect is identified in less than 50% of patients. This review discusses t
• PMID 24793812

• 12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome.

• Izumi K1, Zhang Z, Kaur M, Krantz ID.
• Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology.Chromosome Res.2014 Jul 1. [Epub ahead of print]
• Pallister-Killian syndrome is a multisystem sporadic genetic diagnosis characterized by facial dysmorphia, variable developmental delay and intellectual impairment, hypotonia, seizures, diaphragmatic hernia, and other systemic abnormalities. Pallister-Killian syndrome is typically caused by the pres
• PMID 24981202

• Cardiac manifestations of Pallister-Killian syndrome.

• Tilton RK1, Wilkens A, Krantz ID, Izumi K.
• American journal of medical genetics. Part A.Am J Med Genet A.2014 May;164A(5):1130-5. doi: 10.1002/ajmg.a.36413. Epub 2014 Feb 6.
• Pallister-Killian syndrome (PKS) is a sporadic multisystem genetic diagnosis characterized by facial dysmorphia, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, differences in skin pigmentation, temporal alopecia, diaphragmatic hernia, congenital heart de
• PMID 24504854

Japanese Journal

• Amniocentesis can be useful during the third trimester of pregnancy for antenatal diagnosis of Pallister-Killian syndrome: a case report

• Murakami M.,Iwasa T.,Takahashi Y.,Morine M.
• CLINICAL AND EXPERIMENTAL OBSTETRICS & GYNECOLOGY 38(3), 269-271, 2011
• NAID 120005207093

• Brain MRI findings of older patients with Pallister-Killian syndrome

• SAITO Yoshiaki,MASUKO Kaori,KANEKO Kaori,CHIKUMARU Yuri,SAITO Kazuyo,IWAMOTO Hiroko,MATSUI Akira,AIDA Noriko,KUROSAWA Kenji,KUROKI Yoshikazu,KIMURA Seiji
• Brain & development 28(1), 34-38, 2006-01
• NAID 10017319196

• <原著論文>羊水細胞を用いた染色体異常の出生前診断 : 秋田県において10年間に行った535例の解析

• 小松 偉子
• 秋田医学 28(2), 111-118, 2001
• NAID 110000102459

Related Links

• Pallister-Killian syndromeとは - goo Wikipedia (ウィキペディア)

Pallister-Killian syndrome (also tetrasomy 12p mosaicism or Pallister mosaic aneuploidy syndrome) is an extremely rare genetic disorder occurring in humans. Pallister-Killian occurs due to the presence of the anomalous extra isochromosome ...

• Pallister-Killian mosaic syndrome - Genetics Home Reference

Pallister-Killian mosaic syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual ...

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★リンクテーブル★

リンク元	「パリスター・キリアン症候群」
拡張検索	「Pallister-Killian syndrome」
関連記事	「syndrome」

「パリスター・キリアン症候群」

　　[★]

英

Pallister-Killian syndrome

同

パリスター症候群 Pallister syndrome、キリアン症候群 Killian syndrome、パリスター-キリアン症候群

参考

http://www.pk-syndrome.org/pks_desc_e.htm

• free leaflet

http://www.pkskids.net/UNIQUE.pdf

• wikipedia en

http://en.wikipedia.org/wiki/Pallister%E2%80%93Killian_syndrome

「Pallister-Killian syndrome」

　　[★] パリスター・キリアン症候群

「syndrome」

　　[★]

• n.

• 症候群