Derivative 11;22 (emanuel) syndrome: a case report and a review.

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Small supernumerary marker chromosomes and their correlation with specific syndromes 22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization.A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother.

P2860

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P2860

Derivative 11;22 (emanuel) syndrome: a case report and a review.

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http://www.wikidata.org/entity/Q36837814

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2013 nî lūn-bûn

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2013年の論文

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2013年論文

@yue

2013年論文

@zh-hant

2013年論文

@zh-hk

2013年論文

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2013年論文

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2013年论文

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2013年论文

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2013年论文

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Derivative 11;22 (emanuel) syndrome: a case report and a review.

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Derivative 11;22 (emanuel) syndrome: a case report and a review.

@en

prefLabel

Derivative 11;22 (emanuel) syndrome: a case report and a review.

@en

P1476

Derivative 11;22 (emanuel) syndrome: a case report and a review.

@en

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Dilip Dhamankar

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Gururaj Naregal

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Madan Gopal Choudhary

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

Nitin Sharma

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Prashant Babaji

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Vijay Sunil Reddy

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P2860

Phenotypic variability of the cat eye syndrome. Case report and review of the literature

Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements

MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q

Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22.

Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22).

Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families

Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11

Prenatal screening characteristics in Emanuel syndrome: a case series and review of the literature.

Emanuel syndrome due to unusual segregation of paternal origin.

Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.

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237935

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scholarly article

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10.1155/2013/237935

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2013

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2013-04-18T00:00:00Z

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Derivative 11;22 (emanuel) syndrome: a case report and a review.

about

P2860

P2860

Derivative 11;22 (emanuel) syndrome: a case report and a review.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P577

P5875

P698

P932