https://boards.hellobee.com/ Pregnancy, Baby and Parenting blog, by Hellobee en Tue, 02 Jun 2026 18:27:46 +0000 https://boards.hellobee.com/topic/sox5-12p12-deletion#post-2911010 Sat, 29 Feb 2020 14:18:26 +0000 MoonMoon 2911010@https://boards.hellobee.com/ <p>Thank you for sharing! I was unfamiliar with the syndrome so your post gave me a chance to look it up. Do you feel that therapy will be helpful for your daughter? What therapies is she receiving? Does the diagnosis help you guys answer some questions or put some pieces of the puzzle together or is it more incidental to what you've already been doing for and with your daughter?</p> <p>Finally how's your girl doing? I wish your whole family the best :heart: </p> https://boards.hellobee.com/topic/sox5-12p12-deletion#post-2910991 Sat, 29 Feb 2020 07:59:43 +0000 Ms.Mermaid 2910991@https://boards.hellobee.com/ <p>We got our whole exome results back and our daughter (16 months old) has a deletion of 12p12.1p11.22. She's missing KRAS, SOX5, and PTHLH. The named syndrome for a SOX5 deletion is Lamb-Shaffer Syndrome. Our neurodevelopmental pediatrician doesn't think anything about her therapies should change right now (weekly PT/OT/ST) , but I think she might benefit from more speech therapy. </p> <p>We pursued exome sequencing due to her acquired microcephaly and some concerning eye behavior we thought was seizures, as well as gross motor and speech delays. Her head ultrasound, EEG, and MRI were all unremarkable. </p> <p>Just posting in case this is helpful to anyone else who is dealing with similar issues. </p>