Pallister-Killian syndrome presenting through nuchal translucency screening for trisomy 21

Prenatal Diagnosis

Volumn 20, Issue 8, 2000, Pages 670-672

  Langford, K ^a   Hodgson, S ^a   Seller, M ^a   Maxwell, D ^a  

^a GUY S HOSPITAL   (United Kingdom)

Author keywords

Nuchal translucency; Pallister Killian; Prenatal diagnosis

Indexed keywords

ADULT; ARTICLE; CASE REPORT; FEMALE; FETUS; FETUS ECHOGRAPHY; FIRST TRIMESTER PREGNANCY; HUMAN; HYDROPS; NECK MUSCLE; PALLISTER KILLIAN SYNDROME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TRISOMY 21;

ABNORMALITIES, MULTIPLE; ADULT; CHORIONIC VILLI SAMPLING; CHROMOSOMES, HUMAN, PAIR 12; DOWN SYNDROME; FEMALE; GESTATIONAL AGE; HUMANS; HYDROPS FETALIS; ISOCHROMOSOMES; NECK; PREGNANCY; SYNDROME;

HYDROPS;

EID: 0033880563     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/1097-0223(200008)20:8<670::AID-PD885>3.0.CO;2-U     Document Type: Article

References (10)

1. Gilgenkrantz S, Droulle P, Schweitzer M, et al. 1985. Mosaic tetrasomy 12p. Clin Genet 28: 495-502.
2. Hyett J, Moscoso G, Papapanagiotou G, Perdu M, Nicolaides KH. 1996. Abnormalities of the heart and great arteries in chromosomally normal fetuses with increased nuchal transluceney thickness at 11-13 weeks of gestation. Ultrasound Obstet Gynecol 7: 245-250.
3. Mowery-Rushton PA, Stadler MP, Kochmar SJ, McPherson E, Surti U, Allen Hogge W. 1997. The use of interphase FISH for prenatal diagnosis of Pallister-Killian syndrome. Prenat Diagn 17: 255-265.
4. Pandya PP, Kondylios A, Hubert L, Snijders RJM, Nicolaides KH. 1995. Chromosomal defects and outcome in 1015 fetuses with increased nuchal translucency. Ultrasound Obstet Gynecol 5: 15-19.
5. Schinzel A. 1991. Tetrasomy 12p (Pallister-Killian syndrome). J Med Genet 28: 122-125.
6. Sebire NJ, Snijders RJ, Davenport M, Greenough A, Nicolaides KH. 1997. Fetal nuchal translucency and neonatal death in fetuses with diaphragmatic hernia. Obstet Gynecol 90: 943-946.
7. Sharland M, Hill L, Patel R, Patton M. 1991. Pallister-Killian syndrome diagnosed by chorionic villus sampling. Prenat Diagn 11: 477-479.
8. Snijders RJM, Noble P, Sebire N, Souka A, Nicolaides KH. 1998. UK mulitcentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal translucency thickness at 10-14 weeks of gestation. Lancet 351: 343-346.
9. Soukup S, Nedich K. 1990. Prenatal diagnosis of Pallister-Killian syndrome. Am J Med Genet 35: 526-528.
10. Wilson RD, Harrison K, Clarke LA, Yong SL. 1994. Tetrasomy 12p (Pallister-Killian syndrome): ultrasound indicators and confirmation by interphase FISH. Prenat Diagn 14: 787-792.