(Q34321935)

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Three cell line mosaicism involving structural and numerical abnormalities of chromosome 18 in a 3.5-year-old girl: 47,XX,+18/47,XX,+del(18)(q22)/46,XX.

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Europe PubMed Central

PubMed publication ID

1 August 2017

Three cell line mosaicism involving structural and numerical abnormalities of chromosome 18 in a 3.5-year-old girl: 47,XX,+18/47,XX,+del(18)(q22)/46,XX. (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

author name string

Sutcliffe MJ

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Mueller OT

2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Kousseff BG

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Dumont DP

4

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

McFarland JA

5

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Mawani F

6

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Conforto D

7

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Ranells JD

8

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Europe PubMed Central

PubMed publication ID

1 August 2017

publication date

1 August 2001

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Europe PubMed Central

PubMed publication ID

1 August 2017

American Journal of Medical Genetics Part A

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Europe PubMed Central

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1 August 2017

102

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Europe PubMed Central

PubMed publication ID

1 August 2017

2

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Europe PubMed Central

PubMed publication ID

1 August 2017

192-199

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p11.2q21.3).

1 reference

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21 January 2018

18q- and 18q+ mosaicism in a mentally retarded boy.

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21 January 2018

Partial trisomy of chromosome 18 (pter----q12) following a familial 18;21 translocation rcp(18;21)(q12;q11).

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21 January 2018

Triple structural mosaicism of chromosome 18 in a child with MR/MCA syndrome and abnormal skin pigmentation

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21 January 2018

Prenatal diagnosis of monosomy 18 and ring chromosome 18 mosaicism

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21 January 2018

Dystonia in a patient with deletion of 18q.

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21 January 2018

A 20-year-old male with partial trisomy 18q- as diagnosed by in situ hybridization

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21 January 2018

Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study

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21 January 2018

Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype

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21 January 2018

Spontaneous abortion and confined chromosomal mosaicism

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21 January 2018

Prenatal detection of de novo duplication of the short arm of chromosome 18 confirmed by fluorescence in situ hybridization (FISH).

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21 January 2018

Mosaic trisomy 18 male with normal intelligence who fathered a normal baby girl.

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21 January 2018

Diagnosis of tetrasomy 18p usingin situ hybridization of a DNA probe to metaphase chromosomes

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21 January 2018

Interstitial deletion of chromosome 18[del(18)(q11.2q12.2 or q12.2q21.1]

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21 January 2018

Trisomy 18 and trisomy 21 mosaicism in a Down's syndrome patient

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21 January 2018

Chromosome 18 aneuploidy: anatomical variations observed in cases of full and mosaic trisomy 18 and a case of deletion of the short arm of chromosome 18.

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21 January 2018

Isochromosome 18q in a girl with holoprosencephaly, DiGeorge anomaly, and streak ovaries

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21 January 2018

Partial trisomy 18 with minimal anomalies: lack of correspondence between phenotypic manifestations and triplicated loci along chromosome 18.

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21 January 2018

Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotype

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21 January 2018

Diagnosis of DiGeorge and Williams syndromes using FISH analysis of peripheral blood smears

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21 January 2018

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10.1002/1096-8628(20010801)102:2<192::AID-AJMG1445>3.0.CO;2-D

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