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Intellectual Disability in Two Brothers Caused by De Novo Novel Unbalanced Translocation (13;18) (q34,q23) and De Novo Microdeletion 6q25 Syndrome

We report here two brothers with an intellectual disability (ID), dysmorphic features, speech delay, and congenital hypotonia, with chromosomal microarray confirmed. However, two different de novo chromosomal aberrations; unbalanced translocations (13;18) (q34,q23) were found in the elder boys and d...

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Podrobná bibliografie
Vydáno v:Cureus
Hlavní autoři: Alhashem, Amal M, Almohaid, Manal S, Alanazi, Lina, Alhabardi, Hedayah
Médium: Artigo
Jazyk:Inglês
Vydáno: Cureus 2020
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6984774/
https://ncbi.nlm.nih.gov/pubmed/32010537
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7759/cureus.6778
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