Abstract:
:An infant with delayed development and multiple congenital anomalies was found to possess a duplication of 14q23 leads to qter. This imbalance arose through segregation of a maternal 14/X translocation, observed in only 28% of the mother's cells. Although the X-chromosome-derived portion of the translocation was late replicating in the proposita, the autosomal segment was not inactivated, leading to functional trisomy for distal 14q. Phenotypic comparison to cases with similar duplications does not allow the clinical description of a partial trisomy syndrome.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Cohen MM,Charrow J,Balkin NE,Harris CJsubject
Has Abstractpub_date
1983-07-01 00:00:00pages
635-44issue
4eissn
0002-9297issn
1537-6605journal_volume
35pub_type
杂志文章abstract::Cigarette smoke, containing reactive oxygen species, is the most important risk factor for chronic pulmonary emphysema (CPE). Heme oxygenase-1 (HO-1) plays a protective role as an antioxidant in the lung. A (GT)n dinucleotide repeat in the 5'-flanking region of human HO-1 gene shows length polymorphism and could modul...
journal_title:American journal of human genetics
pub_type: 杂志文章
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journal_title:American journal of human genetics
pub_type: 杂志文章,多中心研究
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/339766
更新日期:2002-04-01 00:00:00
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
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doi:10.1086/427956
更新日期:2005-02-01 00:00:00
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1016/j.ajhg.2019.06.015
更新日期:2019-08-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1991-03-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/513321
更新日期:2007-04-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章,评审
doi:10.1016/j.ajhg.2017.11.002
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abstract::Neurofibromatosis 2 (NF2) is a genetic disorder characterized by the development of multiple nervous-system tumors in young adulthood. The NF2 gene has recently been isolated and found to encode a new member of the protein 4.1 family of cytoskeletal associated proteins, which we have named merlin. To define the molecu...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1994-08-01 00:00:00
abstract::Supernumerary marker chromosomes (SMCs) of chromosome 15, designated "SMC(15)s," are the most common SMC in humans, accounting for as much as 60% of all those observed. We report the characterization of 46 large SMC(15)s, using both fluorescence in situ hybridization and polymerase chain reaction analysis within and d...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/379155
更新日期:2003-11-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1985-05-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1986-08-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/303072
更新日期:2000-10-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1016/j.ajhg.2020.02.001
更新日期:2020-03-05 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/324414
更新日期:2001-12-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1016/j.ajhg.2012.02.011
更新日期:2012-04-06 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章,评审
doi:
更新日期:1994-07-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章,多中心研究
doi:10.1086/302374
更新日期:1999-05-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1981-01-01 00:00:00
abstract::Monosomy for the X chromosome in humans creates a genetic Achilles' heel for nature to deal with. We report that the human X chromosome appears to have one-third the density of the coding sequence of the autosomes and, because of partial shielding from the high mutation rate of the male sex, that it should also have a...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/303010
更新日期:2000-08-01 00:00:00
abstract::Centromeric-mapping methods have been used to investigate the association between altered recombination and meiotic nondisjunction in humans. For trisomies, current methods are based on the genotypes from a trisomic offspring and both parents. Because it is sometimes difficult to obtain samples from both parents and b...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/302799
更新日期:2000-03-01 00:00:00
abstract::We describe a family with a novel disorder characterized by episodic muscle weakness and X-linked inheritance. Eight males in three generations demonstrate the characteristic features of the disorder. Episodes of severe muscle weakness are typically precipitated by febrile illness and affect the facial and extraocular...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/302588
更新日期:1999-10-01 00:00:00
abstract::Insulin resistance and hyperinsulinemia are strong correlates of obesity and type 2 diabetes, but little is known about their genetic determinants. Using data on nondiabetics from Mexican American families and a multipoint linkage approach, we scanned the genome and identified a major locus near marker D6S403 for fast...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/320100
更新日期:2001-05-01 00:00:00
abstract::Diabetes mellitus and neurodegeneration are common diseases for which shared genetic factors are still only partly known. Here, we show that loss of the BiP (immunoglobulin heavy-chain binding protein) co-chaperone DNAJC3 leads to diabetes mellitus and widespread neurodegeneration. We investigated three siblings with ...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1016/j.ajhg.2014.10.013
更新日期:2014-12-04 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/338658
更新日期:2002-02-01 00:00:00
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/420772
更新日期:2004-05-01 00:00:00