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  • Title: Familial distal monosomy 5p15.3-pter with trisomy 12q24.2-qter resulting in neurodevelopmental delay and dysmorphic features.
    Author: Čiuladaitė Ž, Matulevičienė A, Bandanskytė A, Brazaitis A, Kasnauskienė J, Kučinskas V.
    Journal: J Child Neurol; 2014 Mar; 29(3):399-405. PubMed ID: 23340083.
    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.
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