X chromosomal deletion due to microhomology-mediated break-induced replication in a boy with Xp22.3 contiguous gene deletion syndrome: Implications for novel genomic defects leading to Kallmann Syndrome

Koki Nagai

[P1-3-9] X chromosomal deletion due to microhomology-mediated break-induced replication in a boy with Xp22.3 contiguous gene deletion syndrome: Implications for novel genomic defects leading to Kallmann Syndrome

^○Koki Nagai^1,2, Hirohito Shima^1,3, Miki Kamimura³, Junko Kanno³, Ikuma Fujiwara⁴, Erina Suzuki¹, Satoshi Narumi¹, Akira Ishiguro², Maki Fukami¹ (1.Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2.Department of Postgraduate Education and Training, National Center for Child Health and Development, 3.Department of Pediatrics, Tohoku University School of Medicine, 4.Department of Pediatric Endocrinology and Environmental Medicine, Tohoku University Graduate School of Medicine)

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P1-3: Pituitary & Others (CCS, dyslipidemia, etc)

[P1-3-9] X chromosomal deletion due to microhomology-mediated break-induced replication in a boy with Xp22.3 contiguous gene deletion syndrome: Implications for novel genomic defects leading to Kallmann Syndrome

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