Trisomy Xp and partial tetrasomy Xq resulting from gain of a rearranged X chromosome in a female fetus: pathogenic or not?

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Trisomy Xp and partial tetrasomy Xq resulting from gain of a rearranged X chromosome in a female fetus: pathogenic or not?

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

@yue

2015年論文

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2015年論文

@zh-hk

2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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Trisomy Xp and partial tetraso ...... male fetus: pathogenic or not?

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Trisomy Xp and partial tetraso ...... male fetus: pathogenic or not?

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Trisomy Xp and partial tetraso ...... male fetus: pathogenic or not?

@ast

Trisomy Xp and partial tetraso ...... male fetus: pathogenic or not?

@en

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Trisomy Xp and partial tetraso ...... male fetus: pathogenic or not?

@ast

Trisomy Xp and partial tetraso ...... male fetus: pathogenic or not?

@en

P1476

Trisomy Xp and partial tetraso ...... male fetus: pathogenic or not?

@en

P2093

Anita Ki

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Jingwei Yu

http://www.w3.org/2001/XMLSchema#string

Zhongxia Qi

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P2860

Detection of a concomitant distal deletion in an inverted duplication of chromosome 3. Is there an overall mechanism for the origin of such duplications/deficiencies?

A duplication/deficient X chromosome in a girl with mental retardation and dysmorphic features.

Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H--Y antigen and Xg blood group findings.

DNA ends: maintenance of chromosome termini versus repair of double strand breaks.

Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy

Regulation of X-chromosome inactivation by the X-inactivation centre.

The association of the nucleolus and the short arm of acrocentric chromosomes with the XY pair in human spermatocytes: its possible role in facilitating sex-chromosome acrocentric translocations.

Duplications of the X chromosome in males: evidence that most parts of the X chromosome can be active in two copies.

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

Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture.

P2888

s13039-015-0160-5

P304

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P31

scholarly article

case report

P356

10.1186/S13039-015-0160-5

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P478

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P50

Maria Yiu

P577

2015-07-25T00:00:00Z

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P5875

280537379

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P6179

1023979858

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P698

26213575

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P932

4513972

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