(Q48484287)

11 February 2018

title

Trisomy 8p: unusual origin detected by fluorescence in situ hybridization (English)

1 reference

13 October 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1601422

13 October 2022

trisomy

1 reference

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13 October 2022

1 reference

13 October 2022

author name string

C. M. Moore

1

1 reference

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13 October 2022

K. Barnum

2

1 reference

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13 October 2022

C. I. Kaye

3

1 reference

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13 October 2022

K. S. Kagan-Hallett

4

1 reference

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13 October 2022

J. C. Liang

5

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13 October 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1601422

13 October 2022

publication date

1 May 1992

1 reference

11 February 2018

full work available at URL

http://link.springer.com/content/pdf/10.1007/BF00220547.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00220547/fulltext.html

13 October 2022

1 reference

http://link.springer.com/content/pdf/10.1007/BF00220547

13 October 2022

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13 October 2022

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11 February 2018

volume

89

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11 February 2018

issue

3

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11 February 2018

page(s)

307-310

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11 February 2018

describes a project that uses

fluorescence in situ hybridization

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Complete and partial trisomy of different segments of chromosome 8: case reports and review

inferred from title

cites work

1 reference

12 December 2020

Controlled silver-staining of nucleolus organizer regions with a protective colloidal developer: a 1-step method

1 reference

12 December 2020

Trisomy 8p due to the 3:1 segregation of the balanced translocation t(8;15)mat

1 reference

12 December 2020

A human family suggesting evidence for centric fission and stability of a telocentric chromosome.

1 reference

12 December 2020

Cytogenetic analysis by in situ hybridization with fluorescently labeled nucleic acid probes

1 reference

12 December 2020

Trisomy 8p by malsegregation of a t(5;8)(p15;p11)mat in a case of XY pure gonadal dysgenesis

1 reference

12 December 2020

Prenatal diagnosis of a partial 8p trisomy

1 reference

12 December 2020

Report of a trisomy 8p infant with carrier father

1 reference

12 December 2020

Clinical, enzyme, and cytogenetic investigations in three new cases of trisomy 8p

1 reference

12 December 2020

A case of patient with 46, XY, Ep+mat

1 reference

12 December 2020

Chromosome 8 : complete trisomy and segmental trisomies

1 reference

12 December 2020

Cri-du-chat syndrome and trisomy 8p due to a paternal translocation t(5;8)(p1409;p12)

1 reference

12 December 2020

Familial C-G translocation in three relatives associated with severe mental retardation, short stature, unusual dermatoglyphics and other malformations

1 reference

12 December 2020

Duplication 8p syndrome: studies in a family with a reciprocal translocation between chromosomes 8 and 12

1 reference

12 December 2020

Congenital brain anomalies associated with the hypoplastic left heart syndrome.

1 reference

12 December 2020

8p trisomy in a malformed foetus

1 reference

12 December 2020

Partial trisomy of the short arm of chromosome 8 resulting from balanced maternal translocation.

1 reference

12 December 2020

Duplication-deficiency of the short arm of chromosome 8 following artificial insemination

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12 December 2020

Secondary trisomy or mosaic "tetrasomy" 8p.

1 reference

12 December 2020

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

1 reference

12 December 2020

Partial trisomy 8: further observation of a familial C-G translocation chromosome identified by the Q-staining methods.

1 reference

12 December 2020

Partial trisomy 12 and 8 with mosaicism, associated with translocation t(8;12) (p21;q13)

1 reference

12 December 2020

Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission karyotype: 46,XX,-13,+t(13;13)(p11;q11)/46,XX,del(13)(p11)

1 reference

12 December 2020

[A new case of partial trisomy 8p]

1 reference

12 December 2020

Trisomy of the short arm of chromosome 8: Association with translocation between chromosomes 8 and 22 46,XY,22−,t(8p22q)+

1 reference

12 December 2020

46,XY,21qi-46,XY,21p- mosaicism in a child with Down's syndrome.

1 reference

12 December 2020

Familial Wolf's syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates

1 reference

12 December 2020

Inverted tandem duplication of 8p12----p23.1 in a child with increased activity of glutathione reductase

1 reference

12 December 2020

Partial 8p trisomy due to interstitial duplication: karyotype: 46, XX, inv dup(8) (p21.1----p22).

1 reference

12 December 2020

Centric fission of chromosome No. 4 in the mother of two patients with trisomy 4p

1 reference

12 December 2020

Inverted tandem duplication generates a duplication deficiency of chromosome 8p.

1 reference

12 December 2020

Trisomy for 8p21->pter owing to a familial translocation

1 reference

12 December 2020

Unstable telocentric chromosome produced after centric misdivision of a 21q/21q translocated element

1 reference

12 December 2020

Inverted tandem (“mirror”) duplications in human chromosomes: Inv dup 8p, 4q, 22q

1 reference

12 December 2020

A case of centric fission in man

1 reference

12 December 2020

A rapid banding technique for human chromosomes

1 reference

12 December 2020

Dissociation of a t(12;21) resulting in a normal cell line in two trisomic 21 sons of a nonmosaic t(12;21) father?

1 reference

12 December 2020

Balanced transmission of centromeric fission products in man

1 reference

12 December 2020

Two cases of an abnormal short arm of chromosome 8 (8p+) associated with mental retardation

1 reference

12 December 2020

Isolation and characterization of an alpha-satellite repeated sequence from human chromosome 22.

1 reference

12 December 2020

A case of partial trisomy 8p resulting from a maternal balanced translocation

1 reference

12 December 2020

Inverted tandem duplication of the short arm of chromosome 8: a non-random de novo structural aberration in man. Localization of the gene for glutathione reductase in subband 8p21.1.

1 reference

12 December 2020

Two cases of 8p trisomy in one sibship

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00220547

1 reference

11 February 2018

1 reference

11 February 2018