(Q52194023)

26 April 2018

title

"De novo" duplication Xq23-->Xq26 of paternal origin in a girl with a mildly affected phenotype. (English)

1 reference

26 April 2018

author name string

Garcia-Heras J

1

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26 April 2018

Martin JA

2

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26 April 2018

Day DW

3

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26 April 2018

Scacheri P

4

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26 April 2018

Witchel SF

5

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26 April 2018

publication date

1 June 1997

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26 April 2018

American Journal of Medical Genetics Part A

published in

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26 April 2018

volume

70

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26 April 2018

issue

4

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26 April 2018

page(s)

404-408

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26 April 2018

Dir dup(X) (q13-->qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970627%2970%3A4%3C404%3A%3AAID-AJMG13%3E3.0.CO%3B2-L

Sequence of DNA replication in 277 R- and Q-bands of human chromosomes using a BrdU treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970627%2970%3A4%3C404%3A%3AAID-AJMG13%3E3.0.CO%3B2-L

De novo der(X)t(X;10)(q26;q21) with features of distal trisomy 10q: case report of paternal origin identified by late replication with BrdU and the human androgen receptor assay (HAR).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970627%2970%3A4%3C404%3A%3AAID-AJMG13%3E3.0.CO%3B2-L

Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970627%2970%3A4%3C404%3A%3AAID-AJMG13%3E3.0.CO%3B2-L

A duplication within the critical fertility region of X chromosome in a mentally retarded woman with normal menarche

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970627%2970%3A4%3C404%3A%3AAID-AJMG13%3E3.0.CO%3B2-L

The origin of inverted tandem duplications, and phenotypic effects of tandem duplication of the X chromosome long arm

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970627%2970%3A4%3C404%3A%3AAID-AJMG13%3E3.0.CO%3B2-L

Structural aberration of the X chromosome in a patient with gonadal dysgenesis: an approach to karyotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970627%2970%3A4%3C404%3A%3AAID-AJMG13%3E3.0.CO%3B2-L

10.1002/(SICI)1096-8628(19970627)70:4<404::AID-AJMG13>3.0.CO;2-L

21 January 2018

Identifiers

DOI

1 reference

26 April 2018

PubMed ID

9182782

1 reference

26 April 2018