Duplication of chromosome region 4q28.3-qter in monozygotic twins with discordant phenotypes (Q74304184)

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10 November 2019

title

Duplication of chromosome region 4q28.3-qter in monozygotic twins with discordant phenotypes (English)

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10 November 2019

author name string

L Celle

1

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10 November 2019

L Lee

2

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10 November 2019

N Rintoul

3

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10 November 2019

R C Savani

4

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10 November 2019

W Long

5

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10 November 2019

M T Mennuti

6

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10 November 2019

I D Krantz

7

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10 November 2019

publication date

1 September 2000

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American Journal of Medical Genetics Part A

10 November 2019

published in

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10 November 2019

volume

94

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10 November 2019

issue

2

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10 November 2019

page(s)

125-140

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Trisomy 4q : 46, xy, -11, +der (11), t(4;11) (q27; q25) pat in a child with multiple congenital anomalies

10 November 2019

cites work

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Endocrine abnormalities in a patient with partial trisomy 4q.

21 January 2018

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Partial trisomy 4q due to familial 2/4 translocation

21 January 2018

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Partial trisomy 4q: Two cases resulting from a familial translocation t(4;18)(q27;p11)

21 January 2018

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Unbalanced t(4;11)(q32;q23) in a 34-year-old man with manifestations of distal monosomy 11q and trisomy 4q syndromes.

21 January 2018

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Partial trisomy 4q syndrome: case report and review

21 January 2018

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Maternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son: cytogenetic and FISH studies using band-specific painting probes generated by chromosome microdissection

21 January 2018

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Jumping translocation in a newborn boy with dup(4q) and severe hydrops fetalis.

21 January 2018

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Familial tandem duplication of bands q31.1 to q32.3 on chromosome 4 with mild phenotypic effect.

21 January 2018

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Interstitial tandem direct duplication of the long arm of chromosome 4 (q23-q27) and possible assignment of the structural gene encoding human aspartylglucosaminidase to this segment

21 January 2018

1 reference

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Cytogenetic and molecular identification of a de novo direct duplication of the long arm of chromosome 4(q21.3-->q31.3).

21 January 2018

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Partial trisomy 4q resulting from a familial 4/3 translocation

21 January 2018

1 reference

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Familial t (4;21)(q2.4;q2.2) leading to unbalanced offspring with partial duplication of 4q and of 21q without manifestations of the down syndrome

21 January 2018

1 reference

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De novo translocation involving chromosomes 1 and 4 resulting in partial duplication of 4q and partial deletion of 1p.

21 January 2018

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Cri-Du-Chat syndrome in a child with a 46,XX,der(5),t(4;5)(q32;p14)pat Karyotype

21 January 2018

1 reference

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New chromosome aberration: duplication of a large part of chromosome 4q and partial deletion of chromosome 1q.

21 January 2018

1 reference

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Confirmation of a cryptic unbalanced translocation using whole chromosome fluorescence in situ hybridization

21 January 2018

1 reference

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"Pure" partial trisomy 4q25-qter owing to a de novo 4;22 translocation

21 January 2018

1 reference

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Familial t(4;13) with abnormal offspring in three generations

21 January 2018

1 reference

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De novo interstitial tandem duplication of chromosome 4(q21-q28).

21 January 2018

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A family with a high risk of segregation for an autosomal unbalanced reciprocal translocation

21 January 2018

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A case of distal 4q trisomy due to familial (4;5)(q31;p15) translocation

21 January 2018

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False positive results with immunoreactive trypsinogen screening for cystic fibrosis owing to trisomy 13

21 January 2018

1 reference

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Lethal nonpulmonary anomalies associated with congenital diaphragmatic hernia: implications for early intrauterine surgery

21 January 2018

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Monozygotic twinning and structural defects

21 January 2018

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Monozygotic twins with trisomy 18: a report of discordant phenotype

21 January 2018

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Partial trisomy 4q: Two cases with a familial translocation t(4;18)(q27;q23)

21 January 2018

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Partial 4q duplication due to inherited der(13),t(4;13)(q26;q34)mat in a girl with a deficiency of factor X.

21 January 2018

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

21 January 2018

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Further contribution to the description of phenotypes associated with partial 4q duplication

21 January 2018

1 reference

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10.1002/1096-8628(20000911)94:2<125::AID-AJMG5>3.0.CO;2-F

21 January 2018

Identifiers

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10 November 2019

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