Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion

Interstitial deletions of 1q23.3q24.1 are rare. Here, chromosomal microarray testing identified a de novo microdeletion of arr[GRCh37]1q23.3q24.1(164816055_165696996) × 1 in a patient with moderate developmental delay, hearing loss, cryptorchidism, and other distinctive features. The clinical featur...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Genome Var
Prif Awduron: Hoshina, Takao, Seto, Toshiyuki, Shimono, Taro, Sakamoto, Hiroaki, Okuyama, Torayuki, Hamazaki, Takashi, Yamamoto, Toshiyuki
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group UK 2019
Pynciau:
Data Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6804575/
https://ncbi.nlm.nih.gov/pubmed/31645985
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0079-1
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