Abstract:
:Karyotypic abnormalities involving the Y chromosome are common. The clinical spectrum associated with Y chromosome trisomy, tetrasomy or pentasomy is imprecise, as still very few cases have been reported. All cases, however, seem to exhibit some degree of mental retardation and minor facial dysmorphisms. The case we describe is only the fifth reported case of non-mosaic Y tetrasomy. This report and follow-up of a patient, between 4 months and 26 years of age, will certainly be helpful in better characterizing this karyotypic defect.
journal_name
Clin Dysmorpholjournal_title
Clinical dysmorphologyauthors
Paoloni-Giacobino A,Lespinasse Jdoi
10.1097/01.mcd.0000228423.04908.0csubject
Has Abstractpub_date
2007-01-01 00:00:00pages
65-6issue
1eissn
0962-8827issn
1473-5717pii
00019605-200701000-00014journal_volume
16pub_type
杂志文章,评审abstract::Terminal deletions of chromosome 14q are very rarely reported. Schneider et al. (2008) reviewed about 20 cases of 14q32 region deletion in a previous article and only three of the cases involved autosomal translocations; however, no sex chromosome translocations were reported. Here we report the clinical findings of a...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
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更新日期:2012-01-01 00:00:00
abstract::A Japanese boy with a hearing deficit, cataracts, mental retardation, and brachycephaly without craniosynostosis is described. We believe that this patient represents a variant of the Fine-Lubinsky syndrome, and is the first report from a racial group other than Caucasian. ...
journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1994-04-01 00:00:00
abstract::The first case of Yunis-Varon-syndrome in a child of German origin is reported. The child died at the age of 3 months. The literature is reviewed. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1996-07-01 00:00:00
abstract::We report a female child born at 36 weeks of gestation with multiple abnormalities including dysmorphic and coarse facial features with features of mandibulofacial dysostosis that include bilateral microtia with the absence of external auditory meati and Mondini dysplasia as well as, duodenal atresia, intestinal malro...
journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
doi:10.1097/01.mcd.0000198932.09330.33
更新日期:2006-10-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 评论,信件
doi:10.1097/00019605-200204000-00017
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1997-04-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000133499.91871.52
更新日期:2004-07-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e3281e668fd
更新日期:2007-10-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200104000-00007
更新日期:2001-04-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200204000-00007
更新日期:2002-04-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200101000-00012
更新日期:2001-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1993-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000220605.94413.bb
更新日期:2006-07-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1994-10-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 信件
doi:10.1097/00019605-200404000-00013
更新日期:2004-04-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200501000-00006
更新日期:2005-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000220612.63025.4b
更新日期:2006-10-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1994-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
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更新日期:2003-01-01 00:00:00
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pub_type: 杂志文章
doi:10.1097/00019605-200009040-00004
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
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更新日期:2011-07-01 00:00:00
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pub_type: 杂志文章
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
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journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
doi:
更新日期:1995-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 信件
doi:10.1097/00019605-199604000-00012
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1998-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e3282f5280f
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-199807000-00004
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200009010-00002
更新日期:2000-01-01 00:00:00