通过荧光鉴定两种G环缺失：(46,XY,21r)G缺失综合征I和(46,XX,22r)G缺失综合征II。 - Suppr

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超能文献

Identification by fluorescence of two G rings: (46,XY,21r) G deletion syndrome I and (46, XX, 22r) G deletion syndrome II.

作者信息

Magenis R E, Armendares S, Hecht F, Weleber R G, Overton K

出版信息

Ann Genet. 1972 Dec;15(4):265.

PMID:4539485

Abstract

摘要

相似文献

Identification by fluorescence of two G rings: (46,XY,21r) G deletion syndrome I and (46, XX, 22r) G deletion syndrome II.通过荧光鉴定两种G环缺失：(46,XY,21r)G缺失综合征I和(46,XX,22r)G缺失综合征II。

Ann Genet. 1972 Dec;15(4):265.

Identification of 21r and 22r chromosomes by quinacrine fluorescence.通过喹吖因荧光鉴定21号和22号染色体。

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[C-G translocation: karyotype 46, XY,t(Cq-; Gq+): parents 46, XX and 46, XY].[C-G易位：核型46，XY，t（Cq-；Gq+）：父母核型分别为46，XX和46，XY]

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Trisomy 18 with an E-G translocation (46,XY,21-t(21q18q)+). Identification of the component chromosomes by several laboratory techniques.伴有E-G易位（46,XY,21-t(21q18q)+）的18三体综合征。通过多种实验室技术对组成染色体进行鉴定。

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"Pure" monosomy 21 pter leads to q21 in a girl born to a couple 46,XX,t(14;21)(p12;q22) and 46,XY,t(5;18)(q32;q22).一名女孩出现“纯合性”21号染色体单体性，其染色体核型为pter至q21，该女孩的父母核型分别为46,XX,t(14;21)(p12;q22)和46,XY,t(5;18)(q32;q22)。

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[Short-arm deletion of chromosome 18 due to a t(G-;18p+) translocation. Fluorescence study with quinacrine mustard].因t（G-；18p+）易位导致的18号染色体短臂缺失。用喹吖因氮芥进行荧光研究

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Identification of a de novo 46, XY,4p+ with incomplete Wolf-Hirschhorn syndrome as 46,XY,der(4)t(4;8)(p16.3;p23.1).

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A case of r(21) with stigmata of atypical Down syndrome.一例伴有非典型唐氏综合征体征的r(21)病例。

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Karyotype 45,XX,-21/46,XX,21q-in an infant with symptoms of G-deletion syndrome I.核型为45，XX，-21/46，XX，21q-的一名患有I型G缺失综合征症状的婴儿。

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Exclusion gene mapping utilizing patients with chromosome imbalance: the HL-A system as a prototype.

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Balanced translocation, impaired sperm motility, and offspring anomaly.平衡易位、精子活力受损与子代异常。

Arch Dis Child. 1976 Aug;51(8):638-40. doi: 10.1136/adc.51.8.638.

Full monosomy 21: a clinically recognizable syndrome?21号染色体完全单体性：一种临床上可识别的综合征？

Hum Genet. 1977 Jun 30;37(2):155-9. doi: 10.1007/BF00393578.

Clinical and cytogenetic studies of two infants with partial monosomy G.两名部分G染色体单体型婴儿的临床及细胞遗传学研究

Hum Genet. 1977 Mar 14;35(3):255-9. doi: 10.1007/BF00446618.

Four new cases of ring 21 and 22 including familial transmission of ring 21.4例21号和22号环状染色体新病例，包括21号环状染色体的家族性传递。

J Med Genet. 1977 Feb;14(1):54-60. doi: 10.1136/jmg.14.1.54.

An r(22)(p11 leads to q13) in a moderately mentally retarded girl.一名中度精神发育迟滞女孩存在r(22)(p11导致q13)异常。

Hum Genet. 1979 Oct 1;51(2):157-62. doi: 10.1007/BF00287170.

Functional implications of differential chromosome banding.差异染色体带型的功能意义

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