[Partial monosomy due to long-arm deletion of chromosome 11 : del (11) (q23) (author's transl)].
作者信息
Léonard C, Courpotin C, Labrune B, Lepercq G, Kachaner J, Caut P
出版信息
Ann Genet. 1979 Jun;22(2):115-20.
PMID:315201
Abstract
A girl, who died at 25 days of age, was found to have a partial monosomy due to a 11q23 leads to 11qter deletion. The main clinical findings were trigonocephay, facial dysmorphia, and congenital heart disease. A review of developmental and dysmorphic features of the seventeen recognized cases is presented.
摘要
相似文献
1
[Partial monosomy due to long-arm deletion of chromosome 11 : del (11) (q23) (author's transl)].
Ann Genet. 1979 Jun;22(2):115-20.
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[Partial monosomy 11q. A new case].
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Monosomy 11Q: report of new phenotypic manifestations.11号染色体长臂单体：新表型表现的报告。
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[9p monosomy. About a new case. Clinical and cytogenetic study (author's transl)].
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Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)].
Am J Med Genet. 1996 Jan 2;61(1):45-8. doi: 10.1002/(SICI)1096-8628(19960102)61:1<45::AID-AJMG9>3.0.CO;2-W.
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Distal 11q deletion: a specific clinical entity.11号染色体长臂远端缺失：一种特定的临床实体。
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引用本文的文献
1
Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.雅各布森综合征：1例伴有严重眼部异常、生长激素缺乏及甲状腺功能减退且与11号染色体（q23q25）缺失相关的患者报告及52例病例回顾
J Med Genet. 1996 Sep;33(9):772-8. doi: 10.1136/jmg.33.9.772.
2
The 11q;22q translocation: a European collaborative analysis of 43 cases.11号染色体与22号染色体易位：43例病例的欧洲协作分析
Hum Genet. 1980;56(1):21-51. doi: 10.1007/BF00281567.
3
Partial deletion of the long arm of chromosome 11 the Jacobsen syndrome.11号染色体长臂部分缺失即雅各布森综合征。
Indian J Pediatr. 1984 May-Jun;51(410):359-62. doi: 10.1007/BF02754688.
4
Partial deletion of the long arm chromosome 11 in Jacobsen syndrome.雅各布森综合征中11号染色体长臂的部分缺失。
Indian J Pediatr. 1986 Jan-Feb;53(1):123-6. doi: 10.1007/BF02787084.
5
Chromosome deletion at 11q23 in an abnormal child from a family with inherited fragility at 11q23.来自一个11q23存在遗传性脆性的家族的一名异常儿童，其11q23染色体缺失。
Hum Genet. 1987 Jun;76(2):202-4. doi: 10.1007/BF00284923.
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Interstitial deletion of 11q.11号染色体长臂间质缺失
J Med Genet. 1989 Mar;26(3):205-6.
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