Phenotypic characterization of derivative 22 syndrome: case series and review-Reference-Cited by-同舟云学术

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Phenotypic characterization of derivative 22 syndrome: case series and review

Published:2018-03 Issue:1 Volume:97 Page:205-211
ISSN:0022-1333
Container-title:Journal of Genetics
language:en
Short-container-title:J Genet

Author:

Saxena Deepti,Srivastava Priyanka,Tuteja Moni,Mandal Kausik,Phadke Shubha R

Funder

Indian Council of Medical Research

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://link.springer.com/article/10.1007/s12041-018-0905-0/fulltext.html

Reference14 articles.

1. Agarwal M., Gupta R., Boggula V. R. and Phadke S. R. 2013 Utility of chromosomal microarray in five cases with cytogenetic abnormalities detected by traditional karyotype. Clin. Genet. 84, 600–602.

2. Carter M. T., St Pierre S. A., Zackai E. H., Emanuel B. S. and Boycott K. M. 2009 Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): clinical features of 63 individuals. Am. J. Med. Genet A. 149A, 1712–1721.

3. Crolla J. A., Youings S. A., Ennis S. and Jacobs P. A. 2005 Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited. Eur. J. Hum. Genet. 13, 154–160.

4. Fraccaro M., Lindsten J., Ford C. E. and Iselius L. 1980 The 11q;22q translocation: a European collaborative analysis of 43 cases. Hum. Genet. 56, 21–51.

5. Glaser T. S., Rauen K. A., Jeng L. J. and de Alba Campomanes A. G. 2013 Lipodermoid in a patient with Emanuel syndrome. J. AAPOS. 17, 211–213.

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1. Emanuel syndrome due to unusual pattern;Egyptian Journal of Medical Human Genetics;2024-02-12

2. Supernumerary derivative 22 chromosome resulting from novel constitutional non-Robertsonian translocation: t(20;22)—Case Report;Molecular Cytogenetics;2022-03-26

3. Prenatal diagnosis of fetuses with Emanuel syndrome: Results of ultrasound examination and invasive genetic testing;Prenatal Diagnosis;2022-01-31

4. Non-invasive prenatal screening for Emanuel syndrome;Molecular Cytogenetics;2020-03-04

5. Placenta, Abnormal Conception, and Prematurity;Pathology of Childhood and Adolescence;2020

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