P507: Tetrasomy 9p in a patient affected with dilated cardiomyopathy: Incidental finding or extended phenotype?
Notice bibliographique
Résumé
Outcome and Follow-Up: Physical Medicine and Rehabilitation evaluated the patient at 10 months old and reported overall improvement in his developmental milestones.He continued to gain weight appropriately and his anemia improved.He is scheduled to follow-up in genetics clinic for reassessment in 2 years and will be followed by neurology for seizure monitoring.With his early interventions in place, he will continue to receive the necessary support throughout childhood and as he enters school.Discussion: While all the patient's symptoms coincide with GAND, other neurodevelopmental disorders have similar presentations.Some of his symptoms, such as benign subarachnoid space enlargement, reflux, and laryngomalacia can be written off as "common pediatric findings" or that it will improve over time.It is uncertain the extent of his delays and how they compare to other GAND patients as he was diagnosed quite early.His language development and ambulation, while delayed, cannot accurately be compared to the other, older patients.Moreover, his variant has not yet been reported in the literature and whether his course will continue along the same pattern is unknown.Conclusion: It is well known that gene expression can be modified by the environment and the brain shows greater plasticity in early development.Therefore, early diagnosis and intervention can provide a pathway for these children to reach their greatest potential.The awareness and persistence of his mother allowed the patient to be seen by the necessary specialists and receive appropriate interventions in a timely manner.Introduction: GATAD2B associated neurodevelopmental disorder (GAND) is a rare condition present in about 400 individuals.Despite some symptoms presenting quite early, the average age of diagnosis is 6.8 years of age.Case Presentation: An 8-month-old boy presented to genetics clinic with concerns for mild, global developmental delay, macrocephaly, hypotonia and laryngomalacia.He was born full-term and had an uncomplicated delivery without NICU stay.At birth, the head circumference was 99th percentile and at 4 months, it remained in this range.He had trouble feeding with reflux, noisy feeding and chronic nasal congestion.His mother noticed he appeared more fatigued often.His eyes would cross at times.He did not appear to be holding his head up well or rolling over and he was vocalizing, but without consonants.His 2.5-year-old brother did not experience any delays in his development and there was no family history of intellectual disability, developmental delays or autism.Diagnostic Workup: MRI imaging demonstrated benign enlargement of subarachnoid spaces.He was diagnosed with laryngomalacia on flexible laryngoscopy and video fluoroscopic swallow study (VFSS) was consistent with oropharyngeal dysphagia.Esophagogastroduodenoscopy pathology noted reflux esophagitis.Additionally, ophthalmology reported sectional iris pigmentation, over-riding of the orbicularis muscle, and high hyperopic astigmatism, and his audiology assessment revealed middle ear dysfunction.Microarray ordered at 8 months of age identified a duplication on the long arm of chromosome 6 of uncertain significance involving genes AGPAT4 and PRKN.Fragile X screening was normal.Exome sequencing was significant for a novel, de novo heterozygous deletion G275Vfs*18 in GATAD2B consistent with a diagnosis of GAND.
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,001 | 0,000 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,001 | 0,000 |
| Bibliométrie | 0,001 | 0,001 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,000 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule tête enseignante, pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».