Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14

Pediatric Radiology

Volumn 41, Issue 8, 2011, Pages 1013-1019

  Miyazaki, Osamu ^a   Nishimura, Gen ^b   Kagami, Masayo ^a   Ogata, Tsutomu ^a  

^a NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

Bell shaped thorax; Coat hanger sign; Plain radiograph; UPD14

Indexed keywords

AGE; ARTICLE; BELL SHAPED THORAX; BONE DYSPLASIA; CHILD; CHROMOSOME 14; CLINICAL ARTICLE; COAT HANGER SIGN; DIAGNOSTIC IMAGING; DIFFERENTIAL DIAGNOSIS; FEMALE; HUMAN; INFANT; MALE; MORPHOMETRICS; NEWBORN; NEWBORN PERIOD; PRESCHOOL CHILD; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RADIOLOGICAL PARAMETERS; RIB; THORAX DEFORMITY; THORAX MALFORMATION; THORAX RADIOGRAPHY; UNIPARENTAL DISOMY;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 14; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; RADIOGRAPHY, THORACIC; THORACIC DISEASES; THORAX; UNIPARENTAL DISOMY;

EID: 80052624074     PISSN: 03010449     EISSN: 14321998     Source Type: Journal    
DOI: 10.1007/s00247-011-2132-1     Document Type: Article

References (15)

1. D Kotzot 2004 Advanced parental age in maternal uniparental disomy (UPD): implication for the mechanism of formation Eur J Hum Genet 12 343 346 14747835 10.1038/sj.ejhg.5201158 1:CAS:528:DC%2BD2cXjtFOmsL4%3D (Pubitemid 38660183)
2. D Towner SP Yang G Shaffer 2001 Prenatal ultrasound findings in a fetus with paternal uniparental disomy 14q12-qter Ultrasound Obstet Gynecol 18 268 271 11555459 10.1046/j.1469-0705.2001.00451.x 1:STN:280:DC%2BD3MrjsFSrtw%3D%3D (Pubitemid 32830501)
3. AC Offiah L Cornette CM Hall 2003 Paternal uniparental disomy 14: introducing the "coat-hanger" sign Pediatr Radiol 33 509 512 12712270 10.1007/s00247-003-0931-8 (Pubitemid 36833739)
4. DA Stevenson AR Brothman Z Chen, et al. 2004 Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype Am J Med Genet A 130A 88 91 15368501 10.1002/ajmg.a.30200 (Pubitemid 39121566)
5. M Kagami G Nishimura T Okuyama, et al. 2005 Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical feature Am J Med Genet A 138A 127 132 16152632 10.1002/ajmg.a.30941 (Pubitemid 41384261)
6. K Kurosawa H Sasaki M Yamanaka, et al. 2002 Paternal UPD 14 is responsible for a distinctive malformation complex Am J Med Genet 110 268 272 12116236 10.1002/ajmg.10404 (Pubitemid 34627632)
7. M Yamanaka H Ishikawa K Saito, et al. 2010 Prenatal findings of paternal uniparental disomy 14: report of four patients Am J Med Genet 152A 789 791 20186803 10.1002/ajmg.a.33247
8. VR Sutton WH McAlister TK Bertin, et al. 2003 Skeletal defect in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12) Hum Genet 113 447 451 12938037 10.1007/s00439-003-0981-x (Pubitemid 37254249)
9. J Mattes B Whitehead T Liehr, et al. 2007 Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14 Am J Med Genet 143A 2165 2171 17702046 10.1002/ajmg.a.31896
10. MD Irving K Bulting D Kanber, et al. 2010 Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicites the characteristic features of complete pat UPD14 Am J Med Genet 152A 1942 1950 20602488 10.1002/ajmg.a.33449 1:CAS:528:DC%2BC3cXhtV2qs7vN
11. P Georgiades M Watkins MA Surani, et al. 2000 Parental origin-specific developmental defects in mice with uniparental disomy for chromosome 12 Development 127 4719 4728 11023874 1:CAS:528:DC%2BD3cXosl2isL8%3D
12. M Kagami Y Sekita G Nishimura, et al. 2008 Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes Nat Genet 40 237 242 18176563 10.1038/ng.2007.56 1:CAS:528:DC%2BD1cXhsVSjsbw%3D (Pubitemid 351171390)
13. Spranger JW (2002) Asphyxiating thoracic dysplasia. In: Spranger JW, Brill PW, Poznanski A (eds) Bone dysplasia, an atlas of genetic disorders of skeletal development, 2nd edn. Oxford University Press, New York, pp 125-129
14. Swischuk LW (2004) Chapter 1. Respiratory system; respiratory distress in the newborn. In: Swischuk LE (ed) Imaging of the newborn, infant, and young child, 5th edn. Lippincott, Williams & Wilkins, Philadelphia, pp 29-36
15. PD Cotter S Kaffe LD McCurdy, et al. 1997 Paternal uniparental disomy for chromosome 14: a case report and review Am J Med Genet 70 74 79 9129745 10.1002/(SICI)1096-8628(19970502)70:1<74::AID-AJMG14>3.0.CO;2-U 1:STN:280:DyaK2s3nsF2rtg%3D%3D (Pubitemid 27183880)