Abstract:
:Many new microdeletion syndromes have been characterized in the past decade, including 2p15-p16.1 microdeletion syndrome. More than 10 patients with this syndrome have been described. Recently, we encountered two additional patients with 2p15-p16.1 microdeletion syndrome. All patients showed variable degrees of intellectual disability, with the autistic features characteristic of this syndrome. Seven out of 16 patients (44%) showed structural abnormalities in the brain, which is also an important feature of this syndrome. The shortest region of microdeletion overlap among the patients includes two genes, USP34 and XPO1. Although these genes have some functional relevance to cancer, they have not been associated with neurological functions. Diagnosis of additional patients with 2p15-p16.1 microdeletion syndrome and identification of pathogenic mutations in this region will help identify the genes responsible for the neurological features of the syndrome.
journal_name
Congenit Anom (Kyoto)journal_title
Congenital anomaliesauthors
Shimojima K,Okamoto N,Yamamoto Tdoi
10.1111/cga.12112subject
Has Abstractpub_date
2015-08-01 00:00:00pages
125-32issue
3eissn
0914-3505issn
1741-4520journal_volume
55pub_type
杂志文章,评审abstract::Historical control data on rodent developmental toxicity studies, performed between 1994 and 2010, were obtained from 19 laboratories in Japan, including 10 pharmaceutical and chemical companies and nine contract research organizations. Rats, mice, and hamsters were used for developmental toxicity studies. Data includ...
journal_title:Congenital anomalies
pub_type: 历史文章,杂志文章
doi:10.1111/cga.12050
更新日期:2014-08-01 00:00:00
abstract::Hydroxyprogesterone, a synthetic progestin, was used for the treatment of pregnant women with threatened abortion and preterm delivery. Previous studies showed some association between hydroxyprogesterone use during early pregnancy and some specific congenital abnormalities. The population-based large Hungarian data s...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2006.00128.x
更新日期:2006-12-01 00:00:00
abstract::With the high cost and the long-term assessment of developmental toxicity testing in mammals, the vertebrate zebrafish has become a useful alternative model organism for high-throughput developmental toxicity testing. Zebrafish is also very favorable for the 3R perspective in toxicology; however, the methodologies use...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/cga.12142
更新日期:2016-01-01 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
abstract::Deletion of TWIST on 7p21 leads to Saethre-Chotzen syndrome, whereas deletion of the HOXA cluster on 7p15.2 leads to hand-foot-genital syndrome. We report here a patient with 46,XY,del(7)(p15.2p21) who had craniosynostosis, maxillary hypoplasia, prominent ear crus, rectoperineal fistula, and hypoplastic fifth fingers....
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2005.00059.x
更新日期:2005-03-01 00:00:00
abstract::Craniofrontonasal syndrome (CFNS) is characterized by craniosynostosis, hypertelorism, a broad nasal tip and occasionally cleft lip and palate, and is caused by a mutation in the ephrin-B1 gene (EFNB1). The study of naturally occurring human EFNB1 mutations offers a unique opportunity to better define the critical por...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2006.00140.x
更新日期:2007-03-01 00:00:00
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 lissence...
journal_title:Congenital anomalies
pub_type:
doi:10.1111/cga.12193
更新日期:2017-03-01 00:00:00
abstract::The most common form of male infertility is a low sperm count, known as oligozoospermia. Studies suggest that oligozoospermia is associated with epigenetic alterations. Epigenetic alterations in sperm, which may arise due to the exposure of gametes to environmental factors or those that pre-exist in the sperm of infer...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/cga.12113
更新日期:2015-08-01 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
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2009.00228.x
更新日期:2009-06-01 00:00:00
abstract::We determined the overall prevalence of typical orofacial clefts and the potential risks for nonsyndromic cleft lip with or without cleft palate in a university hospital from West México. For the prevalence, 227 liveborn infants with typical orofacial clefts were included from a total of 81,193 births occurred during ...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/cga.12276
更新日期:2018-07-01 00:00:00
abstract::Familial cases of isolated abdominal wall defects with variable expressivity in more than one generation have rarely been observed. We report four affected individuals within a small three-generation family with either variable non-syndromic abdominal wall defects or external genital anomalies. We discuss the possible...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2010.00291.x
更新日期:2011-06-01 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::There is limited information on the specific structural birth defects associated with the abdominal wall defects (AWD) omphalocele and gastroschisis, particularly which defects occur with the AWD at greater than expected rates (rates among all infants and fetuses with birth defects other than the AWD). Using data from...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2008.00184.x
更新日期:2008-06-01 00:00:00
abstract::So far, 46 cases of placental mesenchymal dysplasia have been reported worldwide. We encountered 15 cases of placental mesenchymal dysplasia (PMD) including 7 cases delivered in our hospital. The incidence of PMD in our hospital was therefore, 7/30,758 (0.02%). The PMD had a peculiar appearance. In the gross findings,...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2002.tb00897.x
更新日期:2002-12-01 00:00:00
abstract::An early second-trimester prenatal ultrasound diagnosis of an arthrogryposis multiplex congenita-like syndrome associated with median clefts is reported. A molecular biological work-up was performed to search for a potentially overlapping syndrome and dysostosis. Autopsy and postmortem radiogram were performed to conf...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2012.00388.x
更新日期:2013-09-01 00:00:00
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
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2010.00269.x
更新日期:2010-06-01 00:00:00
abstract::Fetal ventriculomegaly development leads to neurological, motor, and/or cognitive impairment, and is presently diagnosed based on the width of the atrium in the lateral ventricle. But in this study, we have tried to assess the relationship between the development of calcarine sulcus and width of fetal lateral ventricl...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/cga.12197
更新日期:2017-03-01 00:00:00
abstract::Molecular pathogenesis of human cerebral malformations is briefly reviewed from a neuropathologic viewpoint, with emphasis on holoprosencephaly and neuronal migration disorders. Immunopathologic approaches are useful in elucidating the essential pathomechanism of these anomalies. In alobar holoprosencephaly, for insta...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/j.1741-4520.2003.tb01023.x
更新日期:2003-03-01 00:00:00
abstract::When amniocentesis reveals a mosaic karyotype and the baby presents with multiple malformations, an analysis of the baby's peripheral blood typically reveals a mosaic karyotype. We present a boy who was prenatally diagnosed by amniocentesis as having trisomy 9 mosaicisim but who had normal G-banding results on postnat...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2006.00111.x
更新日期:2006-06-01 00:00:00
abstract::Omphalocele-exstrophy of the bladder (cloaca)-imperforate anus-spinal defects (OEIS) complex describes a rare grouping of more commonly occurring component malformations. We report two cases of OEIS complex diagnosed prenatally by ultrasound and magnetic resonance imaging (MRI). In both cases, OEIS complex was suspect...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2011.00342.x
更新日期:2012-09-01 00:00:00
abstract::The time of origin of motor neurons and their distribution in the spinal cord was studied in rat embryos by combining whole-embryo culture and the Islet-1 immunostaining technique. Cells immunostained for Islet-1 appeared in the trunk neural tube by 27 hours (corresponding to E10.625) in culture of E9.5 embryos, at wh...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2002.tb00862.x
更新日期:2002-06-01 00:00:00
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...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/cga.12095
更新日期:2015-02-01 00:00:00
abstract::It is known that neural tube defects are folic acid preventable congenital anomalies. We investigated to what extent this information was disseminated among laywomen and healthcare providers. Questionnaire studies were conducted twice, in 2002 and 2007, for four groups of laywomen and seven groups of healthcare provid...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2009.00232.x
更新日期:2009-09-01 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
abstract::Cerebro-costo-mandibular syndrome (CCMS) is a very rare syndrome characterized by micrognathia and posterior rib gap, with a poor prognosis. To date, only 75 cases have been reported worldwide. The overall survival rate for patients with this disorder has not been reported, and a classification of the patients on the ...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2010.00281.x
更新日期:2010-09-01 00:00:00
abstract::Even though from preclinical testing to drug risk labeling, the situation with drugs in pregnancy has improved substantially since the thalidomide scandal, there is still an increasing need to provide healthcare professionals and patients with updated individualized risk information for clinical decision making. For t...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/j.1741-4520.2010.00308.x
更新日期:2011-03-01 00:00:00
abstract::Report of a female fetus aborted at the 25th week of gestation, with severe microcephalus, trigonocephaly, median cleft lip and palate, arhinia, and anophthalmia. On opening of the skull the cranial cavity seemed to be occupied only by hindbrain structures. The forebrain, including the tentorium cerebelli and the falx...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/cga.1988.28.3.169
更新日期:1988-09-01 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::Wolf-Hirschhorn syndrome (WHS) is a subtelomeric deletion syndrome affecting the short arm of chromosome 4. The main clinical features are a typical craniofacial appearance, growth deficiency, developmental delays, and seizures. Previous genotype-phenotype correlation analyses showed some candidate regions for each cl...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/cga.12318
更新日期:2019-09-01 00:00:00
abstract::The aim of the investigation was to describe the risk of selected types of birth defects among older siblings of infants and fetuses with specific birth defects. Using data from a population-based birth defects registry in Hawaii for deliveries during 1986-2000, the precurrence risk (risk among older siblings) for any...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2007.00173.x
更新日期:2008-03-01 00:00:00