Distal 5q trisomy resulting from an X;5 translocation detected by chromosome painting (Q34069976)

30 July 2017

title

Distal 5q trisomy resulting from an X;5 translocation detected by chromosome painting (English)

1 reference

30 July 2017

Abuelo DN

1

1 reference

30 July 2017

Ahsanuddin AN

series ordinal

2

1 reference

30 July 2017

Mark HF

series ordinal

3

1 reference

30 July 2017

publication date

1 October 2000

1 reference

American Journal of Medical Genetics Part A

30 July 2017

published in

1 reference

30 July 2017

volume

94

1 reference

30 July 2017

issue

5

1 reference

30 July 2017

page(s)

392-399

1 reference

Escape from X inactivation in human and mouse

30 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C392%3A%3AAID-AJMG10%3E3.0.CO%3B2-H

Xist has properties of the X-chromosome inactivation centre

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C392%3A%3AAID-AJMG10%3E3.0.CO%3B2-H

Partial duplication of the long arm of chromosome 5: A case due to balanced paternal translocation and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C392%3A%3AAID-AJMG10%3E3.0.CO%3B2-H

H4 acetylation, XIST RNA and replication timing are coincident and define x;autosome boundaries in two abnormal X chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C392%3A%3AAID-AJMG10%3E3.0.CO%3B2-H

Mild phenotypic effects of a de novo deletion Xpter-->Xp22.3 and duplication 3pter-->3p23.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C392%3A%3AAID-AJMG10%3E3.0.CO%3B2-H

Long-range cis effects of ectopic X-inactivation centres on a mouse autosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C392%3A%3AAID-AJMG10%3E3.0.CO%3B2-H

The (epi)genetic control of mammalian X-chromosome inactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C392%3A%3AAID-AJMG10%3E3.0.CO%3B2-H

X-chromosome inactivation spreads itself: effects in autosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C392%3A%3AAID-AJMG10%3E3.0.CO%3B2-H

A novel, convenient, and inexpensive approach for deriving ISCN (1985) relative lengths: validation by a morphometric study of 100 karyotyped metaphase cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C392%3A%3AAID-AJMG10%3E3.0.CO%3B2-H

Duplication 5q(5q22----5q33): from an intrachromosomal insertion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C392%3A%3AAID-AJMG10%3E3.0.CO%3B2-H

X Inactivation in Females with X-Linked Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C392%3A%3AAID-AJMG10%3E3.0.CO%3B2-H

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C392%3A%3AAID-AJMG10%3E3.0.CO%3B2-H

The spreading of X inactivation into autosomal material of an x;autosome translocation: evidence for a difference between autosomal and X-chromosomal DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C392%3A%3AAID-AJMG10%3E3.0.CO%3B2-H

Familial translocation (X;3) (p22.3;p23): chromosomal in situ suppression (CISS) hybridization and inactivation pattern study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C392%3A%3AAID-AJMG10%3E3.0.CO%3B2-H

X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C392%3A%3AAID-AJMG10%3E3.0.CO%3B2-H

Partial proximal trisomy of the long arm of chromosome 5 (q13 leads to q22) resulting from maternal insertion der ins (10;5)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C392%3A%3AAID-AJMG10%3E3.0.CO%3B2-H

A study of females with deletions of the short arm of the X chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C392%3A%3AAID-AJMG10%3E3.0.CO%3B2-H

Deletion of the short arm of the X chromosome: a hereditary form of Turner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C392%3A%3AAID-AJMG10%3E3.0.CO%3B2-H

Partial trisomy 5q: three different phenotypes depending on different duplication segments

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C392%3A%3AAID-AJMG10%3E3.0.CO%3B2-H

Short stature in a mother and daughter with terminal deletion of Xp22.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C392%3A%3AAID-AJMG10%3E3.0.CO%3B2-H

10.1002/1096-8628(20001023)94:5<392::AID-AJMG10>3.0.CO;2-H

21 January 2018

Identifiers

DOI

1 reference

30 July 2017

1 reference