Abstract:
:Lissencephaly is one of the central nervous system anomalies of Miller-Dieker Syndrome (MDS). Fetuses with lissencephaly have an abnormal smooth brain with fewer folds and grooves that will be detected by ultrasounds or fetal magnetic resonance imaging (MRI) after 30 weeks of gestation. We report a fetus with lissencephaly diagnosed as Miller-Dieker Syndrome postnatally. G banded chromosome analysis revealed 45,X,psu dic(17;Y)(p13;p11.32).ish dic (17;Y)(LIS1-,RARA+, SRY+, DYZ3+) by G-banding analysis using high resolution banding technique. Fetal delayed cortical development will be the findings to perform further investigations including fluorescence in situ hybridization analysis for MDS, a 17p13.3 microdeletion syndrome, pre/postnatally. This will be the first case of MDS with unbalanced translocation between deleted short arm of chromosome 17 and Y chromosome.
journal_name
Congenit Anom (Kyoto)journal_title
Congenital anomaliesauthors
Mishima T,Watari M,Iwaki Y,Nagai T,Kawamata-Nakamura M,Kobayashi Y,Fujieda S,Oikawa M,Takahashi N,Keira M,Yoshida H,Tonoki Hdoi
10.1111/cga.12193subject
Has Abstractpub_date
2017-03-01 00:00:00pages
61-63issue
2eissn
0914-3505issn
1741-4520journal_volume
57pub_type
abstract::It is known that the developing serotonergic system is one of the targets of ethanol teratogenicity. Because serotonin has multiple functions in both mature and immature brains, disturbance of the serotonergic system by ethanol exposure in utero can be cause of a wide range of psychiatric problems in adulthood. In the...
journal_title:Congenital anomalies
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journal_title:Congenital anomalies
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journal_title:Congenital anomalies
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journal_title:Congenital anomalies
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journal_title:Congenital anomalies
pub_type: 杂志文章,评审
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journal_title:Congenital anomalies
pub_type: 杂志文章,评审
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journal_title:Congenital anomalies
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journal_title:Congenital anomalies
pub_type: 杂志文章,评审
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更新日期:2016-01-01 00:00:00
abstract::We report the case of a boy with a de novo partial monosomy 16p13-pter and partial trisomy 16q22-qter detected by fluorescence in situ hybridization using subtelomeric probes for 16p and 16q. The boy had facial characteristics, skeletal features, congenital heart defects, an imperforate anus, urogenital malformations,...
journal_title:Congenital anomalies
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abstract::Certain studies previously pointed out that treating pregnant women with antidepressants may increase risks of congenital anomalies in their children. However, to date, the study results are not conclusive. Furthermore, most studies have been performed using data from Western countries; therefore, we examined this ass...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/cga.12386
更新日期:2020-11-01 00:00:00
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journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2006.00116.x
更新日期:2006-09-01 00:00:00
abstract::Embryonic stem (ES) cells or induced pluripotent stem (iPS) cells are expected as a surrogate cell source for regenerative medicine. Many researchers have reported the differentiation method of insulin-expressing pancreatic β cells from ES or iPS cells. However, the detailed molecular mechanisms underlying the differe...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/j.1741-4520.2010.00307.x
更新日期:2011-03-01 00:00:00
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journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2007.00146.x
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journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/j.1741-4520.2011.00352.x
更新日期:2012-03-01 00:00:00
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journal_title:Congenital anomalies
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doi:10.1111/cga.12318
更新日期:2019-09-01 00:00:00
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journal_title:Congenital anomalies
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doi:10.1111/j.1741-4520.2008.00184.x
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journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/cga.12323
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abstract::Semaphorins and their receptors, neuropilins and plexins, were initially characterized as a modulator of axonal guidance during development, but are now recognized as a regulator of a wide range of developmental events including morphogenesis and angiogenesis, and activities of the immune system. Owing to the developm...
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pub_type: 杂志文章,评审
doi:10.1111/cga.12095
更新日期:2015-02-01 00:00:00
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journal_title:Congenital anomalies
pub_type: 杂志文章,评审
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更新日期:2015-08-01 00:00:00
abstract::This study examined immunohistochemically the expression of an enzymatically active form of tyrosine hydroxylase (TH), phosphorylated TH at Ser40 (phospho-TH), in the cerebellum of ataxic mutant mice, rolling mouse Nagoya (RMN) and dilute-lethal (DL). TH immunostaining appeared in some Purkinje cells in RMN and DL, bu...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2003.00008.x
更新日期:2004-03-01 00:00:00
abstract::Monitoring in Ishikawa Prefecture (mean population; 1,150,000), during the 20-year period from 1981 to 2000, involved monitoring the prevalence of congenital anomalies starting at gestational week 22. The main objectives of the present study were (1) to investigate the trend over the past 20 years in the prevalence of...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2003.tb01015.x
更新日期:2003-12-01 00:00:00
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journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/cga.12304
更新日期:2019-05-01 00:00:00
abstract::Maternal diabetes mellitus is associated with increased fetal teratogenesis, including cardiovascular defects. Non-specific maternal immune stimulation with Freund's complete adjuvant (FCA) or interferon gamma (IFNgamma) has been associated with protection against birth malformations. Using a diabetic mouse model, lat...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2008.00213.x
更新日期:2009-03-01 00:00:00
abstract::Down syndrome (DS) is the most common cause of mental retardation. Several DS mouse models with partial trisomy 16 homologous to human chromosome 21 have been developed, and our research group has been studying those mouse models. We have shown a dosage-dependent overexpression of genes in the trisomic region of the m...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/j.1741-4520.2012.00367.x
更新日期:2012-06-01 00:00:00
abstract::The human genome harbors approximately 2000 genes that encode microRNAs (miRNAs), small non-coding RNAs of approximately 20-22 nt that mediate post-transcriptional gene silencing. MiRNAs are generated from long transcripts through stepwise processing by the Drosha/DGCR8, Exportin-5/RanGTP and Dicer/TRBP complexes. Giv...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/cga.12043
更新日期:2014-02-01 00:00:00
abstract::Six pediatric cases including four infants with congenital polymicrogyria including the perisylvian region are presented herein. Their clinical features were analyzed and compared with patients suffering from congenital bilateral perisylvian syndrome (CBPS). Two specific abnormalities were diagnosed as accompanying di...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2009.00253.x
更新日期:2010-03-01 00:00:00
abstract::For the last 25 years, it has been proven that the occurrence or recurrence of neural tube defects can be prevented with the administration of folic acid before and early pregnancy. At present, over 80 countries in the world, except Japan, have mandated the fortification of wheat flour and/or rice with folic acid, whi...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/cga.12227
更新日期:2017-09-01 00:00:00