Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy

Journal of Assisted Reproduction and Genetics

Volumn 25, Issue 11-12, 2008, Pages 577-580

  Di Vera, Elena ^a   Liberati, Marco ^a   Celentano, Claudio ^a   Calabrese, Giuseppe ^a   Guanciali Franchi, Paolo Emilio ^a   Morizio, Elisena ^a   Rotmensch, Sigfried ^b  

^a UNIVERSITY OF CHIETI   (Italy)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

ARTs; Polymalformations; Prenatal diagnosis; Rhombencephalonsynapsis; Tetrasomy 9p

Indexed keywords

ADULT; AGENESIS; ARTICLE; CASE REPORT; CEREBELLUM VERMIS; CHROMOSOME 9P; CHROMOSOME ANALYSIS; CLINICAL EXAMINATION; DANDY WALKER SYNDROME; DIFFERENTIAL DIAGNOSIS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; GESTATIONAL AGE; HEART DISEASE; HUMAN; INTRACYTOPLASMIC SPERM INJECTION; INTRAUTERINE GROWTH RETARDATION; KARYOTYPE; KIDNEY MALFORMATION; OLIGOHYDRAMNIOS; PARENTAL CONSENT; PATIENT REFERRAL; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RHOMBENCEPHALOSYNAPSIS; SUPERNUMERARY CHROMOSOME; TETRASOMY; ULTRASOUND SCANNER;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 9; FATAL OUTCOME; FEMALE; FETUS; HUMANS; KARYOTYPING; MALE; PREGNANCY; PRENATAL DIAGNOSIS; RHOMBENCEPHALON;

EID: 57349118431     PISSN: 10580468     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10815-008-9257-7     Document Type: Article

References (14)

1. CL Truwit AJ Barkovich R Shanahan TV Maroldo 1991 MR imaging of rhombencephalosinapsis: report of three cases ond review of the literature AJNR Am J Neuroradiol. 12 957 65
2. MI Melaragno D Brunoni FR da Silva Patricia M Corbani Z Mustacchi 1992 A patient with tetrasomy 9p. Dandy-Walker cyst and Hirchsprung disease Ann Genet 35 79 84
3. D Ghymers B Hemann C Distèche J Frederic 1973 Tetrasomie partielle du chromosome 9 à l'ètat mosaique, chez un enfant porteur de malformations multiples Hum Genet. 20 273 82
4. GB Shaefer DB Domek MA Morgan RS Muneer SF Johnson 1991 Tetrasomy of the short arm of chromosome 9: prenatal diagnosis and further delineation of the phenotype Am J Med Genet. 38 612 5
5. VS Tonk 1997 Moving towards a syndrome: a review of 20 cases and a new case of non-mosaic tetrasomy 9p with long-term survival Clin Genet. 52 23 9
6. J Lespinasse H Testard F Nugues M Till MP Cordier M Althuser 2004 A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES) Ann Genet. 47 405 17
7. S Dhandha WA Hogge U Surti E McPherson 2002 Three cases of tetrasomy 9p Am J Med Genet. 113 375 80
8. CP Chen TY Chang JC Shih SP Lin CJ Lin W Wang CC Lee DD Town CW Pan CY Tzen 2002 Prenatal diagnosis of dandy-Walker malformation and ventriculomegaly associated with partial trisomy 9p and distal 12p deletion Prenat Diagn. 12 1063 5
9. A Van Steirteghem M Bonduelle P Devroey I Liebaers 2002 Follow-up of children born after ICSI Hum Reprod Update. 8 111 6
10. AC Gjerris A Loft A Pinborg M Christiansen A Tabor 2008 Prenatal testing among women pregnant after assisted reproductive techniques in Denmark 1995-2000: a national cohort study Hum Reprod. 23 1545 52
11. LM de Azevedo Moreira L Magalhanes Freitas FA Ferreira Gusmano M Riegel 2003 New case of non-mosaic Tetrasomy 9p in a severely polymalformed newborn girl Birth Defects Res. 67 985 8
12. M Feingold L Atkins 1973 A case of trisomy 9 J Med Genet. 10 184 7
13. A Federico P Tomassetti M Zollino M Diomedi MT Dotti N De Stefano GF Gualdi G Neri GL Gigli 1999 Association of trisomy 9p and band heterotopia Neurology. 2 430 2
14. H Utsunomiya K Takano T Ogasawara T Hashimoto T Fukushima M Okazaki 1998 Rhombencephalosynapsis: Cerebellar embryogenesis AJNR Am J Neuroradiol. 19 547 9