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

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...

Full description

Saved in:
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
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items