一名具有类似先天愚型特征儿童的部分三体性。 - Suppr

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超能文献

Partial trisomy in a child with features suggesting mongolism.

作者信息

Kumbnani H K, Pfeiffer R A

出版信息

J Med Genet. 1969 Jun;6(2):201-5. doi: 10.1136/jmg.6.2.201.

DOI:10.1136/jmg.6.2.201

PMID:4240723

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1468861/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ec5/1468861/0e669a7268f4/jmedgene00373-0091-a.jpg

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Partial trisomy in a child with features suggesting mongolism.一名具有类似先天愚型特征儿童的部分三体性。

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Retardation in a child with an extra submetacentric chromosome fragment and partial mongolism.一名患有额外亚中着丝粒染色体片段和部分唐氏综合征特征的儿童发育迟缓。

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Letter: Mongolism by tertiary trisomy.信件：三体性导致的先天愚型

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[Partial trisomy 21 (21q21 - 21q22.2)].[21号染色体部分三体（21q21 - 21q22.2）]

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[Congenital leukemia with chromosome aberrations (Trisomy G) in a non-mongoloid child].

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[Trisomy 21 associated with gonosomic mongolism].[21三体综合征与性染色体异常型先天愚型]

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Identification of partial 12 trisomy by quinacrine fluorescence.用喹吖因荧光法鉴定部分12三体

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The biological significance of mongolism.唐氏综合征的生物学意义。

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本文引用的文献

RECIPROCAL TRANSLOCATION AND MOSAICISM IN A MONGOL.

J Ment Defic Res. 1965 Jun;9:118-24. doi: 10.1111/j.1365-2788.1965.tb00828.x.

An unusual translocation in a case of Mongolism.一例先天愚型患者中的一种罕见易位。

J Pediatr. 1963 Feb;62:225-9. doi: 10.1016/s0022-3476(63)80396-0.

A chromosomal abnormality in a girl with some features of Down's syndrome (mongolism).一名具有唐氏综合征（先天愚型）某些特征的女孩的染色体异常。

J Pediatr. 1963 Jun;62:890-4. doi: 10.1016/s0022-3476(63)80103-1.

Chromosome preparations of leukocytes cultured from human peripheral blood.从人外周血培养的白细胞的染色体标本制备。

Exp Cell Res. 1960 Sep;20:613-6. doi: 10.1016/0014-4827(60)90138-5.

A 1/G translocation in a member of a kindred with a marker chromosome.在一个具有标记染色体的家族成员中发生的1号/ G号染色体易位。

Arch Intern Med. 1967 Mar;119(3):297-301.

[A case of G-G translocation in tandem].[一例串联G-G易位病例]

Ann Genet. 1965;8(1):60-2.

[Reciprocal translocation between a chromosome number 21 (G1) and a chromosome of the group C(C6)].

Helv Paediatr Acta. 1967 Dec;22(6):558-64.

Familial reciprocal translocation between a C group (12?) chromosome and a late labelling G chromosome.

Acta Genet Stat Med. 1968;18(3):241-50. doi: 10.1159/000152141.

Down's syndrome associated with a familial (21q-; 22q+) translocation.

Cytogenetics. 1967;6(5):321-30.

Down's syndrome with unusual karyotype and thyroid autoantibodies.伴有异常核型和甲状腺自身抗体的唐氏综合征。

J Ment Defic Res. 1965 Sep;9(3):157-63. doi: 10.1111/j.1365-2788.1965.tb00833.x.

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