Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing-Reference-Cited by-同舟云学术

Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing

Published:2020-01-08 Issue:4 Volume:182 Page:813-822
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Hu Jie¹²^ORCID,Ou Zhishuo¹,Surti Urvashi¹²³,Kochmar Sally¹,Hoffner Lori³,Madan‐Khetarpal Suneeta⁴,Arnold Georgianne L.⁴,Walsh Leslie⁴,Acquaro Roxanne⁴,Sebastian Jessica⁴,Yatsenko Svetlana A.¹²³^ORCID

Affiliation:

1. Pittsburgh Cytogenetics LaboratoryUPMC Magee‐Womens Hospital Pittsburgh Pennsylvania

2. Department of Obstetrics, Gynecology & Reproductive SciencesUniversity of Pittsburgh School of Medicine Pittsburgh Pennsylvania

3. Department of PathologyUniversity of Pittsburgh, UPMC Magee‐Womens Hospital Pittsburgh Pennsylvania

4. Department of Medical GeneticsUPMC Children's Hospital of Pittsburgh Pittsburgh Pennsylvania

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61482

Reference31 articles.

1. Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism

2. Trisomy 12 mosaicism in a girl with multiple minor anomalies;Aughton D. J.;American Journal of Human Genetics,1996

3. Pallister-Killian syndrome: a report of 2 cases and review of its surgical aspects

4. Mosaicism for trisomy 12: Four cases with varying outcomes

5. An unexpected transmission of von Willebrand disease type 3: the first case of maternal uniparental disomy 12

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