A Rapid and Noninvasive Method for Detecting Tissue-Limited Mosaicism: Detection of i(12)(p10) in Buccal Smear from a Child with Pallister-Killian Syndrome-Reference-Cited by-同舟云学术

A Rapid and Noninvasive Method for Detecting Tissue-Limited Mosaicism: Detection of i(12)(p10) in Buccal Smear from a Child with Pallister-Killian Syndrome

Published:2003-09 Issue:3 Volume:7 Page:219-223
ISSN:1090-6576
Container-title:Genetic Testing
language:en
Short-container-title:Genetic Testing

Author:

Velagaleti Gopalrao V. N.¹,Tapper Jill K.²,Rampy Bill A.²,Zhang Shuliu²,Hawkins Judy C.²,Lockhart Lillian H.²

Affiliation:

1. Department of Pediatrics, University of Texas Medical Branch, Galveston, TX 77555

2. University of Texas Medical Branch, Galveston, TX 77555

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical)

Link

http://www.liebertpub.com/doi/pdf/10.1089/109065703322537232

Reference25 articles.

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

2. Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child

3. Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker

4. Trisomy 12 mosaicism in a 7 year old girl with dysmorphic features and normal mental development.

Cited by 19 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children;Orphanet Journal of Rare Diseases;2024-03-08

2. Histology, 12p status, and IMP3 expression separate subtypes in testicular teratomas;Virchows Archiv;2020-03-06

3. Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis;American Journal of Medical Genetics Part A;2018-10-05

4. Rare case of Killian-Pallister syndrome associated with idiopathic short stature detected with fluorescent in situ hybridization on buccal smear;Molecular Cytogenetics;2016-05-03

5. Response to Cobben et al. “Array CGH on unstimulated blood does not detect all cases of Pallister-Killian Syndrome: Buccal smear analysis should remain the diagnostic procedure of first choice”;American Journal of Medical Genetics Part A;2013-04-23