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.
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
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
💚 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 […]
💚 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.
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.
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.
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 1, 2025 at 11:58 PM
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.
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.
Ophthopedia Update: Complex strabismus in a patient with KBG syndrome with 16q24.3 microdeletion: KBG syndrome is characterized by intellectual disability, and craniofacial and skeletal abnormalities. We report the case of a 5-year-old boy with KBG syndrome with… #Ophthalmology #Eye #Ophthotwitter
Complex strabismus in a patient with KBG syndrome with 16q24.3 microdeletion
KBG syndrome is characterized by intellectual disability, and craniofacial and skeletal abnormalities. We report the case of a 5-year-old boy with KBG syndrome with 16q24.3 microdeletion who showed complex strabismus. Left esotropia and ptosis was first noticed by parents at 18 months of age. He also showed submucosal cleft palate, velopharyngeal insufficiency, prominent eyebrows, short fifth fingers, and fetal finger pad. Marginal reflex distances were +4 mm in the right eye and +1.5 mm in the left eye.
dlvr.it
July 24, 2025 at 9:20 PM
Ophthopedia Update: Complex strabismus in a patient with KBG syndrome with 16q24.3 microdeletion: KBG syndrome is characterized by intellectual disability, and craniofacial and skeletal abnormalities. We report the case of a 5-year-old boy with KBG syndrome with… #Ophthalmology #Eye #Ophthotwitter
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/
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 3:42 AM
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/
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/
AP2M1 and the mystery of missing haploinsufficient genes | Beyond the Ion Channel
...we just published our blog post on AP2M1 as the candidate gene in the 3q27 microdeletion
...and the broader issue of missing haploinsufficient genes
epilepsygenetics.blog/2025/07/21/a...
...we just published our blog post on AP2M1 as the candidate gene in the 3q27 microdeletion
...and the broader issue of missing haploinsufficient genes
epilepsygenetics.blog/2025/07/21/a...
July 22, 2025 at 10:42 AM
AP2M1 and the mystery of missing haploinsufficient genes | Beyond the Ion Channel
...we just published our blog post on AP2M1 as the candidate gene in the 3q27 microdeletion
...and the broader issue of missing haploinsufficient genes
epilepsygenetics.blog/2025/07/21/a...
...we just published our blog post on AP2M1 as the candidate gene in the 3q27 microdeletion
...and the broader issue of missing haploinsufficient genes
epilepsygenetics.blog/2025/07/21/a...
Raelyn Gordon was born with a microdeletion and congenital heart disease, or, in her own words, she has a "special" heart.
Community rallies for Oneida girl with rare heart condition
There will be a Raising Hope for Rae benefit for 8-year-old heart patient Raelyn Gordon from 3-7 p.m. Sunday, Aug. 3 at Holy Cross Academy in Oneida, New York.
tinyurl.com
July 15, 2025 at 3:03 PM
Raelyn Gordon was born with a microdeletion and congenital heart disease, or, in her own words, she has a "special" heart.
3q29 microdeletion
syndrome
syndrome
July 14, 2025 at 11:30 AM
3q29 microdeletion
syndrome
syndrome
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
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
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
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
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
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
‼️ New review from PhD student Claudia on 15q11.2 (BP1-BP2) microdeletion
BP1-BP2 del causes a syndrome including developmental delays and anatomical malformations including congenital heart disease. Variable expressivity and low penetrance make genetic counselling a challenge
#MedSky #CardioSky 🧪
BP1-BP2 del causes a syndrome including developmental delays and anatomical malformations including congenital heart disease. Variable expressivity and low penetrance make genetic counselling a challenge
#MedSky #CardioSky 🧪
Frontiers | Congenital heart disease presentations in the 15q11.2 microdeletion syndrome
www.frontiersin.org
March 19, 2025 at 5:30 PM
‼️ New review from PhD student Claudia on 15q11.2 (BP1-BP2) microdeletion
BP1-BP2 del causes a syndrome including developmental delays and anatomical malformations including congenital heart disease. Variable expressivity and low penetrance make genetic counselling a challenge
#MedSky #CardioSky 🧪
BP1-BP2 del causes a syndrome including developmental delays and anatomical malformations including congenital heart disease. Variable expressivity and low penetrance make genetic counselling a challenge
#MedSky #CardioSky 🧪