New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation-Reference-Cited by-同舟云学术

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New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation

Published:2007 Issue:1 Volume:146A Page:93-96
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Schluth Caroline,Gesny Roselyne,Borck Guntram,Redon Richard,Abadie Véronique,Kleinfinger Pascale,Munnich Arnold,Lyonnet Stanislas,Colleaux Laurence

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.31869/fullpdf

Reference16 articles.

1. DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones

2. Fully Automatic Quantification of Microarray Image Data

3. Another case of interstitial del(12) involving the proposed cardio-facio-cutaneous candidate region

4. Interstitial deletion of chromosome 12q: Genotype-phenotype correlation of two patients utilizing array comparative genomic hybridization

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1. Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype;Clinical Genetics;2022-11-24

2. A New 12q21 Deletion Syndrome: A Case Report and Literature Review;Global Medical Genetics;2022-07-21

3. 12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature;Genes;2022-04-27

4. CNOT2 haploinsufficiency in a 40‐year‐old man with intellectual disability, autism, and seizures;American Journal of Medical Genetics Part A;2021-05-21

5. 12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A;American Journal of Medical Genetics Part A;2020-07-06

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