(Q52167492)

26 April 2018

title

Tertiary trisomy due to a reciprocal translocation of chromosomes 5 and 21 in a four-generation family. (English)

1 reference

26 April 2018

author name string

Braddock SR

1

1 reference

26 April 2018

Henley KM

2

1 reference

26 April 2018

Potter KL

3

1 reference

26 April 2018

Nguyen HG

4

1 reference

26 April 2018

Huang TH

5

1 reference

26 April 2018

publication date

1 June 2000

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26 April 2018

American Journal of Medical Genetics Part A

published in

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26 April 2018

volume

92

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26 April 2018

issue

5

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26 April 2018

page(s)

311-317

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26 April 2018

Familial transmission of a deletion of chromosome 21 derived from a translocation between chromosome 21 and an inverted chromosome 22.

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

Tertiary trisomy (22q11q),47,+der(22),t(11;22).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

De novo dup (5p) in a patient with congenital hypoplasia of the adrenal gland

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

Viability thresholds for partial trisomies and monosomies. A study of 1,159 viable unbalanced reciprocal translocations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

Tetrasomy 21 pter-->q22.1 and Down syndrome: molecular definition of the region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

Chromosomal drive and the evolution of meiotic nondisjunction and trisomy in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

Atypical Peters' anomaly associated with partial trisomy 5p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

Partial trisomy 21. Further evidence that trisomy of band 21q22 is essential for Down's phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

Mongolism in newborn infants. An examination of the criteria for recognition and some speculations on the pathogenic activity of the chromosomal abnormality.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

Duplication 8q24.2----qter and 15q14----pter resulting from a 3:1 meiotic segregation of a maternal reciprocal translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

"Complete" trisomy 5p; de novo translocation t(2;5)(q36;p11) with isochromosome 5p. Case report and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

Apparent Opitz BBBG syndrome with a partial duplication of 5p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

Proximal partial 5p trisomy resulting from a maternal (19;5) insertion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

Double partial trisomy 9q34.1-->qter and 21pter-->q22.11: FISH and clinical findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

Cytogenetic and molecular analysis of a ring (21) in a patient with partial trisomy 21 and megakaryocytic leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

t(15;21)(q15;q22.1) pat resulting in partial trisomy and partial monosomy of chromosomes 15 and 21 in two offspring

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

3:1 meiotic disjunction in a mother with a balanced translocation, 46,XX,t(5,14)(p15;q13) resulting in tertiary trisomy and tertiary monosomy offspring

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

A case report of a de novo tandem duplication (5p) (p14----pter)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

The 11q;22q translocation: a European collaborative analysis of 43 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

Familial partial trisomy 5p resulting from segregation of an insertional translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

Livebirth prevalence and follow-up of malformation syndromes in 27,472 newborns

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

The 11q;22q translocation: a collaborative study of 20 new cases and analysis of 110 families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

Atypical Down syndrome and partial trisomy 21

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

A study of dementia in adults with Down's syndrome using 99Tc(m)-HMPAO SPET.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

Partial trisomy 5 with a carrier parent t(5p‐;9p+)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

Unusual supernumerary chromosomes: types encountered in a referred population, and high incidence of associated maternal chromosome abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

Unusual segregation in a family with a 11/21 translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C311%3A%3AAID-AJMG4%3E3.0.CO%3B2-7

10.1002/1096-8628(20000619)92:5<311::AID-AJMG4>3.0.CO;2-7

21 January 2018

Identifiers

DOI

1 reference

26 April 2018

1 reference

26 April 2018