Abstract:
:Periventricular nodular heterotopia (PNH) is a rare neuronal migration disorder in which immature neurons fail to undergo a directed migration from the ventricular and subventricular zones to the cerebral cortex. Classic PNH occurs predominantly in females and is associated with periods of epilepsy and near-normal intelligence. One gene associated with PNH was mapped to chromosome Xq28. PNH with learning disability is reported in 15 male patients with several syndromes and various congenital abnormalities such as craniosynostosis, frontonasal malformation, and agenesis of the corpus callosum. We present a 26-year-old male patient who was followed up with the diagnosis of epilepsy from the age of 1 year. Additionally the patient had severe learning disability, obesity, and hypogonadism. Imaging of his brain demonstrated PNH. Klinefelter syndrome was clinically suspected, and analysis of his chromosomes revealed a karyotype 46,XY,der(19)t(X;19) (q11.1-11.2;p13.3). Molecular techniques, such as subtelomere-specific fluorescent in-situ hybridization and multicolour banding, were also used. The same translocation was demonstrated in his mother and his maternal grandmother. This family might help to explain the gene localization of X-linked recessive PNH. In our patient, PNH is associated with familial (X;19) translocation. To our knowledge, this unique combination has not been reported in the medical literature.
journal_name
Dev Med Child Neuroljournal_title
Developmental medicine and child neurologyauthors
Balci S,Unal A,Engiz O,Aktas D,Liehr T,Gross M,Mrasek K,Saygi Sdoi
10.1111/j.1469-8749.2007.00219.xsubject
Has Abstractpub_date
2007-03-01 00:00:00pages
219-24issue
3eissn
0012-1622issn
1469-8749pii
DMCN219journal_volume
49pub_type
杂志文章abstract::Following obstetrical brachial plexus injury, infants are unable to learn specific patterns of movement due to the disruption of neural pathways. Even with successful reinnervation (spontaneously or post surgical reconstruction), function can be suboptimal due to overactivity in antagonist muscles preventing movement ...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/S0012162206000557
更新日期:2006-04-01 00:00:00
abstract::The paper reports the second of two studies designed to evaluate the effectiveness of the Kinaesthetic Training Programme (Laszlo and Bairstow, 1985) for children with movement difficulties. Three groups of 12 children were matched on age, IQ and sex as well as degree of kinaesthetic and motor impairment. One group re...
journal_title:Developmental medicine and child neurology
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doi:10.1111/j.1469-8749.1996.tb15059.x
更新日期:1996-11-01 00:00:00
abstract::A population-based group of 27 children with total blindness due to retinopathy of prematurity (ROP), born in Sweden from 1980 to 1990, was examined. They constituted all but two of the total of 29 children with total blindness due to ROP known to the national register of visually impaired children when reviewed from ...
journal_title:Developmental medicine and child neurology
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doi:10.1111/j.1469-8749.1998.tb15439.x
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abstract:AIM:This study examined children's health care service use, mothers' workforce participation, and mothers' community engagement based on children's risk of developmental delay. METHOD:We used data from the All Our Families study, a prospective pregnancy cohort. Ages and Stages Questionnaire (ASQ) scores at year 2 indi...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
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更新日期:2020-03-01 00:00:00
abstract:AIM:To investigate longitudinal changes of habitual physical activity (HPA) and sedentary time in children with cerebral palsy (CP) aged 1 year 6 months to 5 years across all functional abilities. METHOD:At study entry, 95 children (62 males, 33 females) were classified using the Gross Motor Function Classification Sy...
journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
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更新日期:2017-08-01 00:00:00
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journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,meta分析,评审
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更新日期:2016-04-01 00:00:00
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journal_title:Developmental medicine and child neurology
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journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1017/s0012162200001298
更新日期:2000-10-01 00:00:00
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journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1989.tb04072.x
更新日期:1989-12-01 00:00:00
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journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
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更新日期:2016-03-01 00:00:00
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journal_title:Developmental medicine and child neurology
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doi:10.1111/j.1469-8749.2007.00361.x
更新日期:2007-05-01 00:00:00
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journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1995.tb12046.x
更新日期:1995-07-01 00:00:00
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journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.14815
更新日期:2021-01-26 00:00:00
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journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1991.tb14919.x
更新日期:1991-06-01 00:00:00
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journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1984.tb04497.x
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pub_type: 临床试验,杂志文章,多中心研究
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doi:10.1111/j.1469-8749.1989.tb04069.x
更新日期:1989-12-01 00:00:00
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journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/j.1469-8749.1975.tb03523.x
更新日期:1975-10-01 00:00:00
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doi:10.1111/j.1469-8749.1985.tb04574.x
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journal_title:Developmental medicine and child neurology
pub_type: 杂志文章,评审
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更新日期:2010-07-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2019-09-01 00:00:00
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doi:10.1111/j.1469-8749.1990.tb08542.x
更新日期:1990-07-01 00:00:00
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更新日期:2020-12-01 00:00:00
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journal_title:Developmental medicine and child neurology
pub_type: 杂志文章
doi:10.1111/dmcn.14233
更新日期:2019-11-01 00:00:00
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pub_type: 杂志文章
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