The case of an 8-month-old female infant referred for evaluation of multisystemic complications presented with gastrointestinal complications including vomiting and diarrhea, expanding the clinical spectrum of 19p13.3 microdeletion syndrome and underscores the importance of genomic analysis in understanding the underlying disease mechanisms.
Chromosome 6q24.3-q25.1 microdeletion syndrome is a rare contiguous gene deletion disorder associated with multilevel congenital heart defects, growth abnormalities, and dysmorphic features. We report the case of an 8-month-old female child who presented with fever, cough, and respiratory distress. She had a history of...
Kritika Goel, Sarthak Kaushik, Renu Sharma et al.· Indian Journal of Clinical C...· 0 citations
This family provides a detailed clinical and genetic description of 16p11.2 microduplication carriers with prominent gastrointestinal motility and neuromuscular manifestations, thereby enriching the clinical characterization of this recurrent CNV and supporting substantial intrafamilial phenotypic heterogeneity.
Stankiewicz–Isidor syndrome (STISS; OMIM #617516) is a rare autosomal dominant disorder caused by haploinsufficiency of the PSMD12 gene. Most reported cases are associated with point variants in the PSMD12 gene, whereas microdeletions involving this locus are much rarer. We present a clinical case of an 8-month-old gir...
A. S. Iakovleva, Zhanna G. Markova, L. A. Bessonova et al.· PEDIATRIA Journal named afte...· 0 citations
This case highlights the classic expanded phenotype of 22q11.2DS in infancy and demonstrates the technical limitations of WES in identifying microdeletions, and illustrates how parental consanguinity can introduce overlapping or incidental genetic findings (TTN, NEXN, ANO5) that require careful clinical correlation.
Amir Abadi, Usra I. Ghanem, Bissan Badran et al.· Frontiers in Pediatrics· 0 citations
A female child with fetal growth restriction, axial hypotonia, global developmental delay, delayed motor acquisition, and characteristic craniofacial dysmorphisms is reported, highlighting the importance of early diagnosis, longitudinal follow-up, and multidisciplinary intervention in rare neurodevelopmental disorders.
C. Azevedo, Lucinda Delgado, Maria Lopes Almeida et al.· International Journal of Con...· 0 citations
This case report of a female neonate that presented at birth to the cardiothoracic intensive care unit with critical congenital heart disease (CHD), specifically, Tetralogy of Fallot (ToF), underscores the potential importance of phenotype-agnostic genetic workup for critical CHD in the neonatal setting.
Ava Willoughby, Umamaheswaran Gurusamy, Blythe Moreland et al.· American Journal of Medical...· 0 citations
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