Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome

Clinical Genetics

Volumn 81, Issue 3, 2012, Pages 265-271

  Petit, F ^a   Holder Espinasse, M ^a   Duban Bedu, B ^b   Bouquillon, S ^a   Boute Benejean, O ^a   Bazin, A ^c   Rouland, V ^a   Manouvrier Hanu, S ^a   Delobel, B ^b  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b Hopital Saint Vincent de Paul GHICL   (France)

^c Laboratoire de Génétique Pasteur Cerba   (France)

Author keywords

Mosaicism; Pigmentary disorders; Russell; Silver syndrome; Trisomy 7; UPD7

Indexed keywords

AMNIOCENTESIS; ARTICLE; BIRTH; BLOOD SAMPLING; CASE REPORT; CESAREAN SECTION; CHROMOSOME 7; CYTOGENETICS; DIAGNOSTIC ERROR; DISEASE SEVERITY; ECHOCARDIOGRAPHY; FAILURE TO THRIVE; FEEDING DISORDER; FETUS; FETUS ECHOGRAPHY; FETUS KARYOTYPING; FETUS MOSAICISM; GASTROTOMY; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; INTRAUTERINE GROWTH RETARDATION; LONG TERM SURVIVAL; MALE; MATERNAL UNIPARENTAL DISOMY; MICROSATELLITE MARKER; MOSAICISM; PERINATAL PERIOD; PHYSICAL EXAMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SILVER RUSSELL SYNDROME; SKIN BIOPSY; SKIN EXAMINATION; SKIN FIBROBLAST; SKIN MALFORMATION; SKIN PIGMENTATION; SPEECH DISORDER; SPEECH THERAPY; TRISOMY 7; UNIPARENTAL DISOMY; X RAY;

AMNIOCENTESIS; CHROMOSOMES, HUMAN, PAIR 7; DIAGNOSIS, DIFFERENTIAL; DIAGNOSTIC ERRORS; FEMALE; FETAL GROWTH RETARDATION; HUMANS; KARYOTYPE; MALE; MOSAICISM; PREGNANCY; PRENATAL DIAGNOSIS; SILVER-RUSSELL SYNDROME; TRISOMY; UNIPARENTAL DISOMY;

EID: 84856467389     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01621.x     Document Type: Article

References (27)

1. Turleau C, de Grouchy J, Cabanis MO, Nihoul-Fekete C, Dufier JL. Trisomy 7. Internal intersexuality (masculine uterus) and severe abnormality of the anterior chamber of the eye. Ann Genet 1984: 27 (2): 115-117.
2. Yunis E, Ramirez E, Uribe JG. Full trisomy 7 and Potter syndrome. Hum Genet 1980: 54 (1): 13-18.
3. Taibjee SM, Bennett DC, Moss C. Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes. Br J Dermatol 2004: 151 (2): 269-282.
4. Kalousek DK, Langlois S, Robinson WP et al. Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases. Am J Med Genet 1996: 65 (4): 348-352.
5. Hsu LY, Kaffe S, Jenkins EC et al. Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies. Prenat Diagn 1992: 12 (7): 555-573.
6. Hsu LY, Yu MT, Neu RL et al. Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations. Prenat Diagn 1997: 17 (3): 201-242.
7. Kotzot D, Balmer D, Baumer A et al. Maternal uniparental disomy 7 - review and further delineation of the phenotype. Eur J Pediatr 2000: 159 (4): 247-256.
8. Hannula K, Kere J, Pirinen S, Holmberg C, Lipsanen-Nyman M. Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype? J Med Genet 2001: 38 (4): 273-278.
9. Wakeling EL, Amero SA, Alders M et al. Epigenotype-phenotype correlations in Silver-Russell syndrome. J Med Genet 2010: 47 (11): 760-768.
10. Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC. The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J Med Genet 1999: 36 (11): 837-842.
11. Gicquel C, Rossignol S, Cabrol S et al. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet 2005: 37 (9): 1003-1007.
12. Bilimoria KY, Rothenberg JM. Prenatal diagnosis of a trisomy 7/maternal uniparental heterodisomy 7 mosaic fetus. Am J Med Genet A 2003: 118 (1): 60-63.
13. Flori E, Girodon E, Samama B et al. Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome. Eur J Hum Genet 2005: 13 (9): 1013-1018.
14. Font-Montgomery E, Stone KM, Weaver DD, Vance GH, Das S, Thurston VC. Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7. Birth Defects Res A Clin Mol Teratol 2005: 73 (8): 577-582.
15. DeBault LE, Halmi KA. Familial trisomy 7 mosaicism. J Med Genet 1975: 12 (2): 200-203.
16. Hodes ME, Gleiser S, DeRosa GP et al. Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia. J Craniofac Genet Dev Biol 1981: 1 (1): 49-55.
17. Jenkins D, Martin K, Young ID. Hypomelanosis of Ito associated with mosaicism for trisomy 7 and apparent 'pseudomosaicism' at amniocentesis. J Med Genet 1993: 30 (9): 783-784.
18. Kayser M, Henderson LB, Kreutzman J, Schreck R, Graham JM, Jr. Blaschkolinear skin pigmentary variation due to trisomy 7 mosaicism. Am J Med Genet 2000: 95 (3): 281-284.
19. Kivirikko S, Salonen R, Salo A, von Koskull H. Prenatally detected trisomy 7 mosaicism in a dysmorphic child. Prenat Diagn 2002: 22 (7): 541-544.
20. Magenis E, Webb MJ, Spears B, Opitz JM. Blaschkolinear malformation syndrome in complex trisomy-7 mosaicism. Am J Med Genet 1999: 87 (5): 375-383.
21. Moss C, Larkins S, Stacey M, Blight A, Farndon PA, Davison EV. Epidermal mosaicism and Blaschko's lines. J Med Genet 1993: 30 (9): 752-755.
22. Niessen RC, Jonkman MF, Muis N, Hordijk R, van Essen AJ. Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47, XX, + 7/45, X). Am J Med Genet A 2005: 137 (3): 313-322.
23. Pflueger SM, Scott CI Jr, Moore CM. Trisomy 7 and Potter syndrome. Clin Genet 1984: 25 (6): 543-548.
24. Verghese S, Newlin A, Miller M, Burton BK. Mosaic trisomy 7 in a patient with pigmentary abnormalities. Am J Med Genet 1999: 87 (5): 371-374.
25. Knopf C, Rod R, Jaeken J et al. Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism. J Inherit Metab Dis 2000: 23 (4): 399-403.
26. ACLF: Association des Cytogénéticiens de Langue Française. French Cytogenetics Guidelines, version 2.2, 2010 (published online only). Guide de bonnes pratiques en cytogénétique.
27. Warburton D. Trisomy 7 mosaicism: prognosis after prenatal diagnosis. Prenat Diagn 2002: 22 (13): 1239-1240.