A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

In a patient diagnosed with both Kallmann syndrome (KS) and intellectual disability (ID), who carried an apparently balanced translocation t(7;12)(q22;q24)dn, array comparative genomic hybridization (aCGH) disclosed a cryptic heterozygous 4.7 Mb deletion del(12)(p11.21p11.23), unrelated to the trans...

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Detalles Bibliográficos
Autores principales: Ben-Mahmoud, Afif, Kishikawa, Shotaro, Gupta, Vijay, Leach, Natalia T., Shen, Yiping, Moldovan, Oana, Goel, Himanshu, Hopper, Bruce, Ranguin, Kara, Gruchy, Nicolas, Maas, Saskia M, Lacassie, Yves, Kim, Soo-Hyun, Kim, Woo-Yang, Quade, Bradley J., Morton, Cynthia C., Kim, Cheol-Hee, Layman, Lawrence C., Kim, Hyung-Goo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10415337/
https://www.ncbi.nlm.nih.gov/pubmed/37563198
http://dx.doi.org/10.1038/s41598-023-40037-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10415337/
https://www.ncbi.nlm.nih.gov/pubmed/37563198
http://dx.doi.org/10.1038/s41598-023-40037-4

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