Monozygotic twins discordant for trisomy 13

Journal of Perinatology

Volumn 32, Issue 4, 2012, Pages 306-308

  Ramsey, K Wong ^a   Slavin, T P ^a,b   Graham, G ^a   Hirata, G I ^c   Balaraman, V ^a,b   Seaver, L H ^a,b  

^a UNIVERSITY OF HAWAII   (United States)

^b Kapiolani Medical Specialists   (United States)

^c Fetal Diagnostic Institute of the Pacific   (United States)

Author keywords

chimerism; chromosomal mosaicism; discordant twins; heterokaryotypic pregnancy; trisomy 13; trisomy rescue

Indexed keywords

PROSTAGLANDIN;

AMNIOCENTESIS; AORTA ANOMALY; APGAR SCORE; ARTICLE; ARTIFICIAL VENTILATION; BRAIN HEMORRHAGE; CASE REPORT; CHROMOSOME 13; CHROMOSOME MOSAICISM; CYSTIC LYMPHANGIOMA; ECHOCARDIOGRAPHY; FETUS ECHOGRAPHY; FETUS ELECTROCARDIOGRAPHY; HEART ATRIUM SEPTUM DEFECT; HEART INJURY; HEART LEFT RIGHT SHUNT; HEART RIGHT VENTRICLE DOUBLE OUTLET; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYDRONEPHROSIS; HYPERALIMENTATION; INTRAUTERINE GROWTH RETARDATION; KARYOTYPE; MALE; MONOZYGOTIC TWINS; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEWBORN; OVERRIDING AORTA; PATENT DUCTUS ARTERIOSUS; PULMONARY VALVE ATRESIA; RARE DISEASE; TRISOMY 13; TWIN DISCORDANCE; UNIPARENTAL DISOMY;

ABNORMALITIES, MULTIPLE; ADULT; CHIMERISM; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 13; DISEASES IN TWINS; FATAL OUTCOME; FEMALE; FOLLOW-UP STUDIES; HUMANS; INFANT; INFANT, NEWBORN; KARYOTYPING; MALE; MOSAICISM; PREGNANCY; PREGNANCY TRIMESTER, FIRST; TRISOMY; TWINS, MONOZYGOTIC; ULTRASONOGRAPHY, PRENATAL; UNIPARENTAL DISOMY;

EID: 84859369820     PISSN: 07438346     EISSN: 14765543     Source Type: Journal    
DOI: 10.1038/jp.2011.123     Document Type: Article

References (15)

1. Redline RW. Nonidentical twins with a single placenta - disproving dogma in prenatal pathology. N Engl J Med 2003; 349(2): 111-114. (Pubitemid 36818780)
2. Cheng PJ, Shaw SW, Shih JC, Soong YK. Monozygotic twins discordant for monosomy 21 detected by first-trimester nuchal translucency screening. Obstet Gynecol 2006; 107(2 Part 2): 538-541.
3. Dahoun S, Gagos S, Gagnebin M, Gehrig C, Burgi C, Simon F et al. Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events. Am J Med Genet A 2008; 146A(16): 2086-2093.
4. Nieuwint A, Van Zalen-Sprock R, Hummel P, Pals G, Van Vugt J, Van Der Harten H et al. 'Identical' twins with discordant karyotypes. Prenat Diagn 1999; 19(1): 72-76.
5. Rogers JG, Voullaire L, Gold H. Monozygotic twins discordant for trisomy 21. Am J Med Genet 1982; 11(2): 143-146. (Pubitemid 12222461)
6. O'Donnell CP, Pertile MD, Sheffield LJ, Sampson A. Monozygotic twins with discordant karyotypes: a case report. J Pediatr 2004; 145(3): 406-408. (Pubitemid 39165693)
7. Taylor DM, Thum MY, Abdalla H. Dichorionic triamniotic triplet pregnancy with monozygotic twins discordant for trisomy 13 after preimplantation genetic screening: case report. Fertil Steril 2008; 90(5): 2017-e2015-2019.
8. Sepulveda W, Wong AE, Ocaranza M. Heterokaryotypic pregnancy: monozygotic monochorionic twins discordant for trisomy 13. Fetal Diagn Ther 2010; 28(2): 109-113.
9. Machin G. Non-identical monozygotic twins, intermediate twin types, zygosity testing, and the non-random nature of monozygotic twinning: a review. Am J Med Genet C Semin Med Genet 2009; 151C(2): 110-127.
10. Berend SA, Feldman GL, McCaskill C, Czarnecki P, Van Dyke DL, Shaffer LG. Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy. Am J Med Genet 1999; 82(3): 275-281. (Pubitemid 29078818)
11. Soler A, Margarit E, Queralt R, Carrio A, Costa D, Gomez D et al. Paternal isodisomy 13 in a normal newborn infant after trisomy rescue evidenced by prenatal diagnosis. Am J Med Genet 2000; 90(4): 291-293. (Pubitemid 30084253)
12. Jarvela I, Savukoski M, Ammala P, von Koskull H. Prenatally detected paternal uniparental chromosome 13 isodisomy. Prenat Diagn 1998; 18(11): 1169-1173. (Pubitemid 28526228)
13. Slater H, Shaw JH, Dawson G, Bankier A, Forrest SM. Maternal uniparental disomy of chromosome 13 in a phenotypically normal child. J Med Genet 1994; 31(8): 644-646. (Pubitemid 24241414)
14. Walker SP, Meagher S, White SM. Confined blood chimerism in monochorionic dizygous (MCDZ) twins. Prenat Diagn 2007; 27(4): 369-372. (Pubitemid 46597917)
15. Griffith CB, Vance GH, Weaver DD. Phenotypic variability in trisomy 13 mosaicism: two new patients and literature review. Am J Med Genet A 2009; 149A(6): 1346-1358.