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
21
Jul
Cardiomyopathy and the PRDM16 gene
Cardiomyopathy and the PRDM16 gene and its relationship to cardiac phenotypes. Dilated cardiomyopathy (DCM) is a frequent manifestation in patients with 1p36 deletion syndrome. However, it is not clear which of multiple genes in this region are responsible for DCM. Loss of function (LoF) variants in the PRDM16 gene have... Read More
21
Jul
Reciprocal translocation chromosomes 3 and 10
Reciprocal translocation between chromosomes 3 and 10 in a family spanning three generations. Reciprocal translocations are the interchange of genetic material between two chromosomes, leaving breakpoints in each. When this exchange does not result in any net genetic material lost or gained, it is termed a “balanced” translocation and leads... 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
