[Multiple abnormalities as a result of partial trisomy 4p and partial monosomy 18q by meiotic recombination]. - Suppr | 超能文献

[Multiple abnormalities as a result of partial trisomy 4p and partial monosomy 18q by meiotic recombination].

作者信息

Hoo J J, Fuhrmann-Rieger A, Foerster W, Doppl W, Pascu F, Bauer J

出版信息

Monatsschr Kinderheilkd. 1983 Mar;131(3):169-72.

Abstract

摘要

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[Multiple abnormalities as a result of partial trisomy 4p and partial monosomy 18q by meiotic recombination].

Monatsschr Kinderheilkd. 1983 Mar;131(3):169-72.

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Clinicopathological study in a female infant with 46,XX,i(18q) showing mixed features of both trisomy 18 and monosomy 18p.对一名患有46,XX,i(18q)且表现出18三体和18p单体混合特征的女婴进行的临床病理研究。

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Partial trisomy and monosomy for short arm of chromosome number 5 in two sibs and a balanced translocation carrier father.两例同胞及一位平衡易位携带者父亲的5号染色体短臂部分三体和单体。

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引用本文的文献

1

Trisomy 4p and partial monosomy 18q due to paternal translocation t(4;18) (p11; q21.3).由于父亲的t(4;18)(p11;q21.3)易位导致的4p三体和18q部分单体。

Indian J Pediatr. 2000 Aug;67(8):601-4. doi: 10.1007/BF02758495.

2

Trisomy 4p and ocular defects.4号染色体短臂三体与眼部缺陷。

Br J Ophthalmol. 1994 May;78(5):415-7. doi: 10.1136/bjo.78.5.415.

3

Clinical manifestations of trisomy 4p syndrome.4p三体综合征的临床表现。

Eur J Pediatr. 1995 Jun;154(6):425-31. doi: 10.1007/BF02029349.