24
Jul
Mosaic 8q23.1-q24.12 deletion
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Langer-Giedon syndrome (LGS) and Cornelia de Lange Syndrome (CdLS) The genes TPRS1, RAD21, and EXT1 are all in close proximity to one another on chromosome 8 in region 8q23.3-q24.11. TPRS1 and EXT1 are implicated in Langer-Giedon Syndrome (LGS), a rare autosomal dominant deletion disorder characterized by craniofacial abnormalities, osteochondromas,... Read More
14
Jul
Chromosome 4q-Syndrome
Della Giustina et al. “Brain Pathology in Terminal Deletion of Chromosome 4 (4q- Syndrome): A Case Report.”. “Fetal and pediatric pathology” 2025, v. 44(6), 542–550. The clinical phenotype of the 4q31q35 terminal deletion includes craniofacial dysmorphism, hand and finger anomalies, cardiac or genitourinary defects, and variable degrees of cognitive impairment... Read More
14
Jul
Chromosome 16p13.3 Deletion
Tamura et al. “Co-Occurrence of Urogenital Anomalies and Congenital Heart Disease in a Child With Alpha-Thalassemia Mental Retardation Syndrome Associated With Chromosome 16 Abnormalities due to Partial Monosomy 16p13.3 and Partial Trisomy 16q22.1–q24.3”. “Congenital Anomalies” 2025, v. 65(1), e70033. ATR16 syndrome is caused by partial loss of the most distal... Read More
14
Jul
Chromosome 15q26.3 Deletion
Park et al. “Genetic screening of the insulin-like growth factor 1 receptor gene in children born small for gestational age: the continuing importance of insulin-like growth factor 1 signaling”. “Endocrine journal.” 2026, v. 73(2), 251–263. Small for gestational age refers to newborns with a birth weight below the 10th percentile... Read More
14
Jul
Chromosome 9q34.11 Microduplication
De Falco et al. “9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms”. “American Journey of Medical Genetics Part A” 2026, v. 200(3):706-717. Individuals with 9q34 microduplications have an increased risk of developmental and speech delay, learning disabilities, behavioral problems, and often have characteristic dysmorphic facial... Read More
