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

<p dir="ltr">In a patient diagnosed with both Kallmann syndrome (KS) and intellectual disability (ID), who carried an apparently balanced translocation t(7;12)(q22;q24)<i>dn</i>, array comparative genomic hybridization (aCGH) disclosed a cryptic heterozygous 4.7 Mb deleti...

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Bibliographic Details
Main Author:	Afif Ben-Mahmoud (13913550) (author)
Other Authors:	Shotaro Kishikawa (19483132) (author), Vijay Gupta (209146) (author), Natalia T. Leach (19483135) (author), Yiping Shen (102565) (author), Oana Moldovan (808331) (author), Himanshu Goel (509740) (author), Bruce Hopper (19483138) (author), Kara Ranguin (19483141) (author), Nicolas Gruchy (14829754) (author), Saskia M Maas (19483144) (author), Yves Lacassie (6034238) (author), Soo-Hyun Kim (10655) (author), Woo-Yang Kim (206701) (author), Bradley J. Quade (19483147) (author), Cynthia C. Morton (10860072) (author), Cheol-Hee Kim (36752) (author), Lawrence C. Layman (13913559) (author), Hyung-Goo Kim (728597) (author)
Published:	2023
Subjects:	Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Kallmann Syndrome (KS) Intellectual Disability (ID) Chromosomal Deletion Candidate Genes Phenotypic-Genotypic Comparison Gene Expression TSPAN11
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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

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