絞り込み

16641

広告

「医療マンガ大賞」、受賞作品が決定 (日経BP)

神奈川県横浜市は今年、医療広報の一環として、漫画を活用した取り組み「医療マンガ大賞」を創設した(関連記事:医師と患者のギャップを埋める「医療マンガ大賞」創設)。...

  1. タイの大型肉食恐竜、新種と判明 (デイリ...
  2. 映画を通じた交流を 大阪韓国映画祭始まる...
  3. だんだん小さく、やがて視野の外…「さよな...
  4. 新種の大型肉食恐竜「シャムラプトル・スワ...

ニュース一覧

OEIS complex associated with chromosome 1p36 deletion: a case report and review.

著者 El-Hattab AW , Skorupski JC , Hsieh MH , Breman AM , Patel A , Cheung SW , Craigen WJ
Am J Med Genet A.2010 Feb ; 152A(2):504-11.
この記事をPubMed上で見るPubMedで表示
この記事をGoogle翻訳上で見る Google翻訳で開く

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

スターを付ける スターを付ける     (846view , 0users)

Full Text Sources

Miscellaneous

Other Literature Sources

OEIS complex (Omphalocele, Exstrophy of the cloaca, Imperforate anus, and Spine abnormalities) is a rare defect with estimated incidence of 1 in 200,000 live births. Most cases are sporadic, with no obvious cause. However, it has been rarely reported in patients with family members having similar malformations or with chromosomal anomalies. In addition, OEIS complex has been observed in association with environmental exposures, twinning, and in vitro fertilization. Monosomy 1p36 is the most common terminal deletion syndrome, with a prevalence of 1 in 5,000 newborns. It is characterized by specific facial features, developmental delay, and heart, skeletal, genitourinary, and neurological defects. We describe an infant with OEIS complex and 1p36 deletion who had features of both disorders, including omphalocele, cloacal exstrophy, imperforate anus, sacral multiple segmentation, renal malposition and malrotation, genital anomalies, diastasis of the symphysis pubis, microbrachycephaly, large anterior fontanel, cardiac septal defects, rib fusion, a limb deformity, developmental delay, and typical facial features. Chromosomal microarray analysis detected a 2.4 Mb terminal deletion of chromosome 1p. This is the first reported case with OEIS complex in association with a chromosome 1p36 deletion.
PMID: 20101692 [PubMed - indexed for MEDLINE]
印刷用ページを開く Endnote用テキストダウンロード