Four Cases of 1p36 Deletion Syndrome

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  • 1p36欠失症候群の4例

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<p>1p36 deletion syndrome is caused by submicroscopic deletion in the subtelomeric region of chromosome 1. The features of the syndrome are characteristic facial appearance（straight eye-brows, deep-set eyes, flat nasal bridge, unsymmetrical shape of earflap and pointed chin）, cardiac anomaly, intellectual disability, epilepsy, cleft lip and palate, and cleft soft palate. We investigated four cases of 1p36 deletion syndrome.</p><p>Patient 1 was a 7-year-old girl who had intellectual disability, characteristic facial appearance, ventricular septal defect, cardiac anomaly and epilepsy. Three congenital missing teeth were observed at #53, 63 and 73 and one pegged tooth was also observed at #83. In addition, open bite was observed.</p><p>Patient 2 was a 13-year-old girl who had intellectual disability, characteristic facial appearance, cardiac anomaly and epilepsy. One congenital missing tooth was observed at #41 and four pegged teeth were observed at #12, 22, 53 and 63. In addition, cleft palate and crowding of teeth were observed.</p><p>Patient 3 was a 15-year-old boy who had intellectual disability, characteristic facial appearance, ventricular septal defect and epilepsy. Fused teeth of #71 and 72 were observed, one congenital missing tooth was observed at #32 and one pegged tooth was observed at #13. In addition, cleft soft palate and crowding of teeth were observed.</p><p>Patient 4 was a 21-year-old female who had intellectual disability, characteristic facial appearance, cardiac anomaly and epilepsy. Fused teeth of #72 and 73, and 83 and 84 were observed. Two congenital missing teeth were observed at #32 and 42. In addition, open bite was observed.</p><p>The frequency of congenital missing teeth and pegged teeth in cases with 1p36 deletion syndrome was found to be high, and we consider that these might be features of the syndrome. Open bite was observed in patients 1 and 3. However, both patients with open bite also had a tongue-thrusting habit, therefore the relation was not clear.</p><p>All four patients had intellectual disability, so self-brushing was impossible. We consider that professional care is very important.</p>

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