Iris Transillumination Defects Associated With Pallister–Killian Syndrome
This report describes a new finding of iris transillumination defects in Pallister–Killian syndrome, a rare multi-system disorder resulting from mosaic tetrasomy of the short arm of chromosome 12. [J Pediatr Ophthalmol Strabismus 2010;47:58–59.]
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| Published in | Journal of pediatric ophthalmology and strabismus Vol. 47; no. 1; pp. 58 - 59 |
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| Language | English |
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Thorofare, NJ
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01.01.2010
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| Abstract | This report describes a new finding of iris transillumination defects in Pallister–Killian syndrome, a rare multi-system disorder resulting from mosaic tetrasomy of the short arm of chromosome 12. [J Pediatr Ophthalmol Strabismus 2010;47:58–59.] |
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| AbstractList | This report describes a new finding of iris transillumination defects in Pallister-Killian syndrome, a rare multi-system disorder resulting from mosaic tetrasomy of the short arm of chromosome 12.This report describes a new finding of iris transillumination defects in Pallister-Killian syndrome, a rare multi-system disorder resulting from mosaic tetrasomy of the short arm of chromosome 12. This report describes a new finding of iris transillumination defects in Pallister–Killian syndrome, a rare multi-system disorder resulting from mosaic tetrasomy of the short arm of chromosome 12. [J Pediatr Ophthalmol Strabismus 2010;47:58–59.] This report describes a new finding of iris transillumination defects in Pallister-Killian syndrome, a rare multi-system disorder resulting from mosaic tetrasomy of the short arm of chromosome 12. This report describes a new finding of iris transillumination defects in Pallister–Killian syndrome, a rare multi-system disorder resulting from mosaic tetrasomy of the short arm of chromosome 12. [J Pediatr Ophthalmol Strabismus 2010;47:58–59.] |
| Author | Ticho, Benjamin H. |
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| References | Schroer RJ (e_1_3_1_4_2) 1983; 2 e_1_3_1_8_2 e_1_3_1_13_2 e_1_3_1_12_2 e_1_3_1_11_2 Graham W (e_1_3_1_7_2) 1999; 117 e_1_3_1_9_2 e_1_3_1_10_2 e_1_3_1_3_2 e_1_3_1_6_2 Pallister D (e_1_3_1_2_2) 1977; 13 e_1_3_1_5_2 |
| References_xml | – volume: 13 start-page: 103 year: 1977 ident: e_1_3_1_2_2 article-title: The Pallister-mosaic syndrome publication-title: Birth Defects Orig Artic Ser – ident: e_1_3_1_5_2 doi: 10.1002/ajmg.1320470219 – ident: e_1_3_1_10_2 doi: 10.1002/ajmg.1320270204 – ident: e_1_3_1_11_2 doi: 10.1007/BF02032864 – ident: e_1_3_1_13_2 doi: 10.1002/ajmg.1320270204 – volume: 2 start-page: 3 year: 1983 ident: e_1_3_1_4_2 article-title: Further clinical delineation of the syndrome of unusual facial appearance, abnormal hair, and mental retardation reported by Teschler-Nicola and Killian publication-title: Proc Greenwood Cntr – ident: e_1_3_1_8_2 doi: 10.1002/(SICI)1096-8628(19970317)69:2<166::AID-AJMG9>3.0.CO;2-N – volume: 117 start-page: 1648 year: 1999 ident: e_1_3_1_7_2 article-title: Retinal pigment mosaicism in Pallister-Killian syndrome (mosaic tetrasomy 12p) publication-title: Arch Ophthalmol – ident: e_1_3_1_9_2 doi: 10.1111/j.1399-0004.1987.tb02832.x – ident: e_1_3_1_3_2 doi: 10.1136/jmg.28.2.122 – ident: e_1_3_1_12_2 doi: 10.1002/ajmg.1320350104 – ident: e_1_3_1_6_2 doi: 10.3928/0191-3913-19950301-17 |
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| Snippet | This report describes a new finding of iris transillumination defects in Pallister–Killian syndrome, a rare multi-system disorder resulting from mosaic... This report describes a new finding of iris transillumination defects in Pallister-Killian syndrome, a rare multi-system disorder resulting from mosaic... |
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| SubjectTerms | Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Alopecia Anus, Imperforate - diagnosis Anus, Imperforate - genetics Baldness Chromosome Aberrations Chromosomes Chromosomes, Human, Pair 12 Craniofacial Abnormalities - diagnosis Craniofacial Abnormalities - genetics Fibroblasts Humans Infant, Newborn Intellectual disabilities Intestinal Volvulus - diagnosis Intestinal Volvulus - genetics Iris - abnormalities Iris Diseases - congenital Iris Diseases - diagnosis Iris Diseases - genetics Male Mosaicism Patients Strabismus Syndrome |
| Title | Iris Transillumination Defects Associated With Pallister–Killian Syndrome |
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