Researchers created a new mouse model with the longest Williams syndrome microdeletion to date, mirroring key facial, cardiovascular, and neuropsychological traits seen in patients.
Read more in PNAS Nexus: https://ow.ly/GKNA50XAN5v
Read more in PNAS Nexus: https://ow.ly/GKNA50XAN5v
December 2, 2025 at 10:01 PM
Researchers created a new mouse model with the longest Williams syndrome microdeletion to date, mirroring key facial, cardiovascular, and neuropsychological traits seen in patients.
Read more in PNAS Nexus: https://ow.ly/GKNA50XAN5v
Read more in PNAS Nexus: https://ow.ly/GKNA50XAN5v
If we want to play that stupid game put the blame squarely on the shoulders of those at fault for miscarriage.
"Y chromosome microdeletion may be an important hidden cause of recurrent pregnancy miscarriage "
And for our officials who have forgotten basic science,Y chromosomes only come from men
"Y chromosome microdeletion may be an important hidden cause of recurrent pregnancy miscarriage "
And for our officials who have forgotten basic science,Y chromosomes only come from men
June 7, 2025 at 2:47 AM
If we want to play that stupid game put the blame squarely on the shoulders of those at fault for miscarriage.
"Y chromosome microdeletion may be an important hidden cause of recurrent pregnancy miscarriage "
And for our officials who have forgotten basic science,Y chromosomes only come from men
"Y chromosome microdeletion may be an important hidden cause of recurrent pregnancy miscarriage "
And for our officials who have forgotten basic science,Y chromosomes only come from men
Congrats to BCM medical students Melina Corriveau & Joshua Korb for leading a great team of collaborators in identifying MEF2C-AS1 and #chromothripsis in 5q14.3 microdeletion syndrome. Providing key answers for #rarediseases #epilepsy 👏👏@bcmgenetics.bsky.social @bcmhouston.bsky.social
Rare #chromosome reshuffling leads to severe complex form of #epilepsy. Dr. HT Chao @htchaolab.bsky.social explains the findings. @bcmhouston.bsky.social @bcmgenetics.bsky.social #chromothripsis blogs.bcm.edu/2025/02/18/f...
Rare chromosome reshuffling leads to severe complex form of epilepsy
Although it's more commonly found in cancer, chromosome reshuffling is increasingly identified in neurodevelopmental disorders.
blogs.bcm.edu
February 24, 2025 at 11:01 PM
Congrats to BCM medical students Melina Corriveau & Joshua Korb for leading a great team of collaborators in identifying MEF2C-AS1 and #chromothripsis in 5q14.3 microdeletion syndrome. Providing key answers for #rarediseases #epilepsy 👏👏@bcmgenetics.bsky.social @bcmhouston.bsky.social
💚 Le SAS est causé par des anomalies du gène SATB2 situé sur le chromosome 2q33.1.
💜 Le SAS est également connu sous le nom de syndrome de Glass, délétion/microdélétion/mutation 2q33.1. Il a été décrit pour la première fois en 1989.
💜 Le SAS est également connu sous le nom de syndrome de Glass, délétion/microdélétion/mutation 2q33.1. Il a été décrit pour la première fois en 1989.
August 23, 2025 at 8:08 AM
💚 Le SAS est causé par des anomalies du gène SATB2 situé sur le chromosome 2q33.1.
💜 Le SAS est également connu sous le nom de syndrome de Glass, délétion/microdélétion/mutation 2q33.1. Il a été décrit pour la première fois en 1989.
💜 Le SAS est également connu sous le nom de syndrome de Glass, délétion/microdélétion/mutation 2q33.1. Il a été décrit pour la première fois en 1989.
Mercedes Paredes + a team of researchers from @ucsanfrancisco.bsky.social @ihgatucsf.bsky.social + @ucdavis.bsky.social received a $6.25M grant from the California Institute for Regenerative Medicine to explore a new approach for treating CNS-associated microdeletion syndromes tiny.ucsf.edu/WrkHzw
February 4, 2025 at 5:48 PM
Mercedes Paredes + a team of researchers from @ucsanfrancisco.bsky.social @ihgatucsf.bsky.social + @ucdavis.bsky.social received a $6.25M grant from the California Institute for Regenerative Medicine to explore a new approach for treating CNS-associated microdeletion syndromes tiny.ucsf.edu/WrkHzw
💚 Le SAS est causé par des anomalies du gène SATB2 situé sur le chromosome 2q33.1.
💜 Le SAS est également connu sous le nom de syndrome de Glass, délétion/microdélétion/mutation 2q33.1. Il a été décrit pour la première fois en 1989.
💚 Le SAS est de novo, ce qui signifie qu’il n’est […]
💜 Le SAS est également connu sous le nom de syndrome de Glass, délétion/microdélétion/mutation 2q33.1. Il a été décrit pour la première fois en 1989.
💚 Le SAS est de novo, ce qui signifie qu’il n’est […]
Original post on pouet.chapril.org
pouet.chapril.org
August 23, 2025 at 8:11 AM
💚 Le SAS est causé par des anomalies du gène SATB2 situé sur le chromosome 2q33.1.
💜 Le SAS est également connu sous le nom de syndrome de Glass, délétion/microdélétion/mutation 2q33.1. Il a été décrit pour la première fois en 1989.
💚 Le SAS est de novo, ce qui signifie qu’il n’est […]
💜 Le SAS est également connu sous le nom de syndrome de Glass, délétion/microdélétion/mutation 2q33.1. Il a été décrit pour la première fois en 1989.
💚 Le SAS est de novo, ce qui signifie qu’il n’est […]
2/5: The microRNA MIR-9-2 is often deleted along with other genes in human 5q14.3 Microdeletion Syndrome, a rare but severe neurodevelopmental disorder with developmental delay, disrupted speech, epilepsy, and frequently with disrupted blood vessels and enlarged brain ventricles.
August 2, 2025 at 12:02 AM
2/5: The microRNA MIR-9-2 is often deleted along with other genes in human 5q14.3 Microdeletion Syndrome, a rare but severe neurodevelopmental disorder with developmental delay, disrupted speech, epilepsy, and frequently with disrupted blood vessels and enlarged brain ventricles.
Population differences of chromosome 22q11.2 duplication structure predisposes differentially to microdeletion and inversion. https://www.biorxiv.org/content/10.1101/2025.07.04.662981v1
July 6, 2025 at 7:33 AM
Population differences of chromosome 22q11.2 duplication structure predisposes differentially to microdeletion and inversion. https://www.biorxiv.org/content/10.1101/2025.07.04.662981v1
Population differences of chromosome 22q11.2 duplication structure predisposes differentially to microdeletion and inversion. https://www.biorxiv.org/content/10.1101/2025.07.04.662981v1
July 6, 2025 at 7:33 AM
Population differences of chromosome 22q11.2 duplication structure predisposes differentially to microdeletion and inversion. https://www.biorxiv.org/content/10.1101/2025.07.04.662981v1
Case report: The smallest 9p21.3 microdeletion involving <em>CDKN2A</em> but not <em>CDKN2B</em> causes multiple plexiform neurofibromas
Case report: The smallest 9p21.3 microdeletion involving <em>CDKN2A</em> but not <em>CDKN2B</em> causes multiple plexiform neurofibromas
Case report: The smallest 9p21.3 microdeletion involving <em>CDKN2A</em> but not <em>CDKN2B</em> causes multiple plexiform neurofibromas
pubmed.ncbi.nlm.nih.gov
March 6, 2025 at 11:57 AM
Case report: The smallest 9p21.3 microdeletion involving <em>CDKN2A</em> but not <em>CDKN2B</em> causes multiple plexiform neurofibromas
Quest Amniocentesis For Microdeletion
Quest Amniocentesis For Microdeletion
Quest Amniocentesis For Microdeletion
www.reddit.com
June 10, 2025 at 8:56 PM
Quest Amniocentesis For Microdeletion
We examined neurons from mice with a 15q13.3 microdeletion, a genetic change strongly linked to neuropsychiatric disorders in humans.
Deep-layer GABAergic neurons—especially somatostatin-positive (Sst_Chodl) cells—to be most severely affected.
Deep-layer GABAergic neurons—especially somatostatin-positive (Sst_Chodl) cells—to be most severely affected.
November 25, 2025 at 7:38 PM
We examined neurons from mice with a 15q13.3 microdeletion, a genetic change strongly linked to neuropsychiatric disorders in humans.
Deep-layer GABAergic neurons—especially somatostatin-positive (Sst_Chodl) cells—to be most severely affected.
Deep-layer GABAergic neurons—especially somatostatin-positive (Sst_Chodl) cells—to be most severely affected.
#RareDiseaseDay is 29th February. My youngest niece, T, has a chromosomal microdeletion. She is featured in this film here about Unique, the charity that supports chromosomal and other gene related diseases https://youtu.be/WUoreAoRfv8
November 22, 2024 at 8:31 AM
#RareDiseaseDay is 29th February. My youngest niece, T, has a chromosomal microdeletion. She is featured in this film here about Unique, the charity that supports chromosomal and other gene related diseases https://youtu.be/WUoreAoRfv8
2/5: The microRNA MIR-9-2 is often deleted along with other genes in human 5q14.3 Microdeletion Syndrome, a rare but severe neurodevelopmental disorder with developmental delay, disrupted speech, epilepsy, and frequently with disrupted blood vessels and enlarged brain ventricles.
August 1, 2025 at 11:58 PM
2/5: The microRNA MIR-9-2 is often deleted along with other genes in human 5q14.3 Microdeletion Syndrome, a rare but severe neurodevelopmental disorder with developmental delay, disrupted speech, epilepsy, and frequently with disrupted blood vessels and enlarged brain ventricles.
3/5: A role for MIR-9-2 in this disorder has been underappreciated because it was thought to be redundant. We show loss of even just one copy of miR-9-2 causes early hemorrhages, enlarged ventricles, and disrupted development in the mouse brain, mirroring features of 5q14.3 Microdeletion Syndrome.
August 2, 2025 at 12:02 AM
3/5: A role for MIR-9-2 in this disorder has been underappreciated because it was thought to be redundant. We show loss of even just one copy of miR-9-2 causes early hemorrhages, enlarged ventricles, and disrupted development in the mouse brain, mirroring features of 5q14.3 Microdeletion Syndrome.
Prefrontal parvalbumin neurons as a target for enhancing cognition in non-pathological and 22q11.2 microdeletion syndrome mice https://www.biorxiv.org/content/10.1101/2025.03.31.645999v1
April 1, 2025 at 7:15 AM
Prefrontal parvalbumin neurons as a target for enhancing cognition in non-pathological and 22q11.2 microdeletion syndrome mice https://www.biorxiv.org/content/10.1101/2025.03.31.645999v1
It's #TraineeTuesday!
Meet Jennifer Boateng, a PhD student in Dr. Karun Singh’s lab.
Her research focuses on the 15q13.3 microdeletion syndrome, which can lead to various neurodevelopmental disorders.
Read more in our newsletter >> bit.ly/4hlOxpP
@uhntoronto.bsky.social
@uhnresearch.bsky.social
Meet Jennifer Boateng, a PhD student in Dr. Karun Singh’s lab.
Her research focuses on the 15q13.3 microdeletion syndrome, which can lead to various neurodevelopmental disorders.
Read more in our newsletter >> bit.ly/4hlOxpP
@uhntoronto.bsky.social
@uhnresearch.bsky.social
February 25, 2025 at 4:50 PM
It's #TraineeTuesday!
Meet Jennifer Boateng, a PhD student in Dr. Karun Singh’s lab.
Her research focuses on the 15q13.3 microdeletion syndrome, which can lead to various neurodevelopmental disorders.
Read more in our newsletter >> bit.ly/4hlOxpP
@uhntoronto.bsky.social
@uhnresearch.bsky.social
Meet Jennifer Boateng, a PhD student in Dr. Karun Singh’s lab.
Her research focuses on the 15q13.3 microdeletion syndrome, which can lead to various neurodevelopmental disorders.
Read more in our newsletter >> bit.ly/4hlOxpP
@uhntoronto.bsky.social
@uhnresearch.bsky.social
As someone who's autistic due to a microdeletion, this is bullshit.
RFK Jr. plans to say Tylenol use during pregnancy is potentially linked to autism. The report will also suggest a folate supplement could "treat symptoms" of being autistic, WSJ reports.
www.wsj.com/health/healt...
www.wsj.com/health/healt...
Exclusive | RFK Jr., HHS to Link Autism to Tylenol Use in Pregnancy and Folate Deficiencies
Kennedy’s autism report, touted by Trump, will suggest that using the pain reliever during pregnancy may be linked to the developmental disorder.
www.wsj.com
September 5, 2025 at 6:19 PM
As someone who's autistic due to a microdeletion, this is bullshit.
The 16p11.2 microdeletion influences how early-life microbiota perturbations affect hippocampal development and behavior throughout the lifespan https://www.biorxiv.org/content/10.1101/2025.02.25.639888v1
February 25, 2025 at 10:15 PM
The 16p11.2 microdeletion influences how early-life microbiota perturbations affect hippocampal development and behavior throughout the lifespan https://www.biorxiv.org/content/10.1101/2025.02.25.639888v1
GephyrinΔ199-233 - an epileptogenic microdeletion https://www.biorxiv.org/content/10.1101/2025.08.26.672322v1
August 31, 2025 at 5:15 AM
GephyrinΔ199-233 - an epileptogenic microdeletion https://www.biorxiv.org/content/10.1101/2025.08.26.672322v1
Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review https://pubmed.ncbi.nlm.nih.gov/40692708/
July 22, 2025 at 2:30 PM
Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review https://pubmed.ncbi.nlm.nih.gov/40692708/
We love sharing story's from our community around the world - it helps us all feel connected. Today we share Kai's story, told by Madison. If you relate please drop a comment below.
Kai lives in Maryland, USA and has 15q13.3 #microdeletion #syndrome.
Kai lives in Maryland, USA and has 15q13.3 #microdeletion #syndrome.
July 24, 2025 at 3:46 PM
We love sharing story's from our community around the world - it helps us all feel connected. Today we share Kai's story, told by Madison. If you relate please drop a comment below.
Kai lives in Maryland, USA and has 15q13.3 #microdeletion #syndrome.
Kai lives in Maryland, USA and has 15q13.3 #microdeletion #syndrome.
Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review https://pubmed.ncbi.nlm.nih.gov/40692708/
July 23, 2025 at 2:26 PM
Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review https://pubmed.ncbi.nlm.nih.gov/40692708/
DiGeorge syndrome / Velocardiofacial syndrome
-Chromosome 22q11.2 microdeletion
CATCH
-Conotruncal cardiac defects (ToF, truncus arteriosus)
-Abnormal facies
-Thymic hypoplasia/aplasia (T-cell def)
-Craniofacial deformities (cleft palate)
-Hypocalcemia/Hypoparathyroidism
-Chromosome 22q11.2 microdeletion
CATCH
-Conotruncal cardiac defects (ToF, truncus arteriosus)
-Abnormal facies
-Thymic hypoplasia/aplasia (T-cell def)
-Craniofacial deformities (cleft palate)
-Hypocalcemia/Hypoparathyroidism
March 25, 2025 at 11:09 PM
DiGeorge syndrome / Velocardiofacial syndrome
-Chromosome 22q11.2 microdeletion
CATCH
-Conotruncal cardiac defects (ToF, truncus arteriosus)
-Abnormal facies
-Thymic hypoplasia/aplasia (T-cell def)
-Craniofacial deformities (cleft palate)
-Hypocalcemia/Hypoparathyroidism
-Chromosome 22q11.2 microdeletion
CATCH
-Conotruncal cardiac defects (ToF, truncus arteriosus)
-Abnormal facies
-Thymic hypoplasia/aplasia (T-cell def)
-Craniofacial deformities (cleft palate)
-Hypocalcemia/Hypoparathyroidism
Same here, I have a disorder called 2q23.1 microdeletion of a chromosome and a duplication of 16p13.11
December 11, 2024 at 7:25 PM
Same here, I have a disorder called 2q23.1 microdeletion of a chromosome and a duplication of 16p13.11