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

• Published in: Scientific reports Vol. 13; no. 1; pp. 12984 - 23
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 10.08.2023; Nature Publishing Group; Nature Portfolio
• Subjects: 631/208; 631/378; 692/420; 692/617; 692/699; Animal models; Breakpoints; Chromosome translocations; Cognitive ability; Copy number; Development Biology; Gene deletion; Genes; Humanities and Social Sciences; Hybridization; Intellectual disabilities; Kallmann's syndrome; Life Sciences; multidisciplinary; Mutation; Neurodevelopmental disorders; Next-generation sequencing; Patients; Phenotypes; Science; Science (multidisciplinary); Translocation

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 tra...