Mosaic trisomy 1q: The longest surviving case

American Journal of Medical Genetics, Part A

Volumn 149, Issue 8, 2009, Pages 1795-1800

  Patel, Chirag ^a   Hardy, Graham ^b   Cox, Phillip ^b   Bowdin, Sarah ^a,c   McKeown, Carole ^a   Russell, Alison Bedford ^d  

^a BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^b BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d UNIVERSITY HOSPITALS BIRMINGHAM NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Chromosome 1; Complete trisomy 1q; Mosaic; Trisomy 1q

Indexed keywords

ARTICLE; AUTOPSY; BODY WEIGHT; BRAIN MALFORMATION; CASE REPORT; CAUSE OF DEATH; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION 1; CHROMOSOME TRANSLOCATION 22; CLEFT PALATE; CLINICAL EXAMINATION; CORPUS CALLOSUM; DEVELOPMENTAL DISORDER; EAR MALFORMATION; ECHOCARDIOGRAPHY; ECHOGRAPHY; FEEDING DISORDER; FOREIGN BODY ASPIRATION; GASTROESOPHAGEAL REFLUX; GASTROINTESTINAL MALFORMATION; GESTATIONAL AGE; HEART ATRIUM SEPTUM DEFECT; HEART DISEASE; HOME CARE; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; KARYOTYPE 46,XY; LUNG MALFORMATION; MALE; MICROGNATHIA; MOSAICISM; NERVOUS SYSTEM MALFORMATION; NEWBORN INTENSIVE CARE; NOSE FEEDING; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY ARREST; RESPIRATORY DISTRESS; RESUSCITATION; SKIN FIBROBLAST; SYNDACTYLY; THUMB MALFORMATION; TRISOMY; TRISOMY 1Q; UPPER RESPIRATORY TRACT CONGESTION; UPPER RESPIRATORY TRACT INFECTION;

BRAIN; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 22; FATAL OUTCOME; HUMANS; INFANT; INFANT, NEWBORN; MALE; METAPHASE; MOSAICISM; SURVIVAL ANALYSIS; SYNDACTYLY; TRISOMY;

EID: 68049097099     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32959     Document Type: Article

References (16)

1. Alfaro R, Perez-Granero A, Duran MA, Besalduch J, Rosell J, Bernues M. 2007. Dup(1)(q21q32) as a sole cytogenetic event is associated to a leukemic transformation in myelodysplastic syndromes. Leuk Res 2008:159-161. (Pubitemid 350110351)
2. Angelidis P, Kojouri K, Lee J, Kern W, Mulvihill JJ, Li S. 2006. Trisomy 1q in a patient with severe aplastic anemia. Cancer Genet Cytogenet 169:73-75. (Pubitemid 44093734)
3. Christiansen LR, Lage JM, Wolff DJ, Pai GS, Harley RA. 2005. Mosaic duplication 1(q11q44) in an infant with nephroblastomatosis and mineralization of extraplacental membranes. Pediatr Dev Pathol 8:115-123.
4. Fernandez-Novoa MC, Vargas MT, Granell MR, Carreto P. 2004. Prenatal diagnosis of de novo trisomy 1(q21-qter)der(Y)t(Y;1) in a malformed live born. Prenat Diagn 24:414-417. (Pubitemid 38868726)
5. Gfatter R, Braun F, Schnedl W. 1998. The common features of patients with partial trisomy of the long arm of chromosome 1. Clin Genet 54:161-163. (Pubitemid 28403336)
6. Kaufman H, Tyrkus M, Payne J, Drog L, Stilwell S. 1997. Prenatal detection of mosaic t(Y;1) in a fetus with anencephaly and an omphalocele. Am J Hum Genet 61:A129.
7. Machlitt A, Kuepferling P, Bommer C, Koerner H, Chaoui R. 2005. Prenatal diagnosis of trisomy 1q21-qter: Case report and review of literature. Am J Med Genet Part A 134A:207-211. (Pubitemid 40446219)
8. Mark HF, Wyandt H, Pan A, Milunsky JM. 2005. Constitutional partial 1q trisomy mosaicism and Wilms tumor. Cancer Genet Cytogenet 162:166-171. (Pubitemid 41423475)
9. Pettenati MJ, Berry M, Shashi V, Hartley Bowen J, Harper M. 2001. Prenatal diagnosis of complete sole trisomy 1q. Prenat Diagn 21:435-440. (Pubitemid 32666612)
10. Sawyer JR, Binz RL, Swanson CM, Lim C. 2007. De novo proximal duplication of 1(q12q22) in a female infant with multiple congenital anomalies. Am J Med Genet Part A 143A:338-342. (Pubitemid 46214195)
11. Scheuerle A, Heller K, Elder F. 2005. Complete trisomy 1q with mosaic Y;1 translocation: A recurrent aneuploidy presenting diagnostic dilemmas. Am J Med Genet Part A 138A:166-170. (Pubitemid 41384268)
12. Scrideli CA, Baruffi MR, Squire JA, Ramos ES, Karaskova J, Heck B, Tone LG. 2005. Acute monocytic leukaemia and multiple abnormalities in a child with duplication of 1q detected by GTG-banding and SKY. Leuk Res 29:1465-1467. (Pubitemid 41562250)
13. Utine GE, Aktas D, Alanay Y, Gucer S, Tuncbilek E, Mrasek K, Liehr T. 2007. Distal partial trisomy 1q: Report of two cases and a review of the literature. Prenat Diagn 27:865-871. (Pubitemid 47425409)
14. Watson WJ, Katz VL, Albright SG, Rao KW, Aylsworth AS. 1990. Monozygotic twins discordant for partial trisomy 1. Obstet Gynecol 76:949-951. (Pubitemid 20370790)
15. Wax JR, Carpenter M, Chard R, Cartin A, Pinette MG, Blackstone J. 2008. Prenatal sonographic features of trisomy 1q. J Clin Ultrasound 36:231-236.
16. Zeng S, Patil SR, Yankowitz J. 2003. Prenatal detection of mosaic trisomy 1q due to an unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization: A postzygotic error. Am J Med Genet Part A 120A:464-469. (Pubitemid 37063740)