title: Familial distal monosomy 5p15.3-pter with trisomy 12q24.2-qter resulting in neurodevelopmental delay and dysmorphic features.
abstract: Developmental delay and brain anomalies leading to significant morbidity and mortality are frequently caused by chromosomal rearrangements. We report on a familial unbalanced translocation resulting in distal monosomy 5p15.3-pter with trisomy 12q24.2-qter in 2 half siblings with cerebral dysgenesis, severe intellectual disability, dysmorphic features, progressive weakness, and atrophy of muscles.
authors: 1Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
authors: Živilė
authors: Ž
authors: Čiuladaitė
authors: Aušra
authors: A
authors: Matulevičienė
authors: Aušra
authors: A
authors: Bandanskytė
authors: Andrius
authors: A
authors: Brazaitis
authors: Jūratė
authors: J
authors: Kasnauskienė
authors: Vaidutis
authors: V
authors: Kučinskas
mesh_terms: D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002881:Chromosomes, Human, Pair 12; D002895:Chromosomes, Human, Pair 5; D055028:Comparative Genomic Hybridization; D020732:Cytogenetic Analysis; D002658:Developmental Disabilities / Q000235:genetics* / Q000473:pathology; D005145:Face / Q000002:abnormalities*; D005190:Family; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D009006:Monosomy; D014314:Trisomy; D055815:Young Adult
keywords: 12q trisomy; 5p monosomy; chromosomal; intrauterine growth retardation; karyotype; neurodevelopmental delay