Severe fetal malformations associated with trisomy 16 confined to the placenta

Prenatal Diagnosis

Volumn 17, Issue 8, 1997, Pages 777-779

  Sánchez, José María ^a   López De Díaz, Silvia ^a   Panal, Marcelo Julio ^a   Moya, Graciela ^a   Kenny, Alberto ^b   Iglesias, Diana ^c   Wolstenholme, John ^d  

^a Fundacion Genos   (Argentina)

^b IFER   (Argentina)

^c Biologfa Molecular Diagnôstica SA   (Argentina)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

CPM; Fetal malformations; Trisomy 16

Indexed keywords

ACCESSORY SPLEEN; ADULT; AMNIOCENTESIS; AMNION FLUID; ARTICLE; AUTOPSY; CASE REPORT; CHORION VILLUS SAMPLING; CORPUS CALLOSUM AGENESIS; CYTOGENETICS; CYTOTROPHOBLAST; FEMALE; FETUS (ANATOMY); FETUS ECHOGRAPHY; FETUS MALFORMATION; HUMAN; HYDROCEPHALUS; INTRAUTERINE GROWTH RETARDATION; KARYOTYPE; MOLECULAR GENETICS; PLACENTA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; UMBILICAL ARTERY;

ABNORMALITIES; ADULT; AMNIOCENTESIS; CHORIONIC VILLI SAMPLING; CHROMOSOMES, HUMAN, PAIR 16; FEMALE; FETAL GROWTH RETARDATION; GESTATIONAL AGE; HUMANS; HYDROCEPHALUS; MOSAICISM; PLACENTA; PREGNANCY; TRISOMY; ULTRASONOGRAPHY, PRENATAL; UMBILICAL ARTERIES;

EID: 1842336788     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199708)17:8<777::AID-PD128>3.0.CO;2-H     Document Type: Article

References (15)

1. Devi, A.S., Velinov, M., Kamath, K.V., Eisenfeld, L., Neu, R., Ciarlegliol, L., Greenstein, R., Benn, P. (1993). Variable clinical expression of mosaic trisomy 16 in the newborn infant, Am. J. Med. Genet., 47, 294-298.
2. Fletcher, B.A., Sanz, M.M., Schlessel, J.S., Kunaporn, S., McKenna, C., Bialer, M.G., Alonso, M.L., Zaslav, A.L., Brown, W.T., Ray, J.H. (1994). Postnatal confirmation of prenatally diagnosed trisomy 16 mosaicism in two phenotypically abnormal liveborns, Prenat. Diagn., 14, 933-940.
3. Garber, A., Carlson, D., Schrek, R., Fischel-Ghodsian, N., Hsu, W.-T., Oeztas, S., Pepkowitz, S., Graham, J.M., Jr. (1994). Prenatal diagnosis and dysmorphic findings in mosaic trisomy 16, Prenat. Diagn., 14, 257-266.
4. Gilbertson, N.J., Taylor, J.W., Kovar, I.Z. (1990). Mosaic trisomy 16 in a liveborn infant. Arch. Dis. Child., 65 (Special Issue), 388-389.
5. Greally, J.M., Boone, L.Y., Cummins, J.H., Lenkey, S.G., Wenger, S.L., Fischer, D.R., Paul, R.H., Hughes, H.B., Neiswanger, K., Steele. M.W. (1990). Mosaic trisomy 16 in a minimally dysmorphic child: clincial, cytogenetic and molecular studies, Am. J. Hum. Genet., 47, #0857.
6. Hassold, T.J. (1986). Chromosome abnormalities in human reproductive wastage, Trends Genet., 2, 105-110.
7. Hassold, T.J., Jacobs, P.A. (1984). Trisomy in man, Annu. Rev. Genet., 18, 69-97.
8. Hassold, T., Merrill, M., Adkins, K., Freeman, S., Sherman, S. (1995). Recombination and maternal age-dependent nondisjunction: molecular studies of trisomy 16, Am. J. Hum. Genet., 57, 867-874.
9. Jalal, S., Lindor, N.M., Bonde, D., Karnes, P. (1992). Trisomy 16 mosaicism in a six month old infant, Am. J. Hum. Genet, 51, A290 (Abstract).
10. Kalousek, D.K., Barrett, I. (1994). Genomic imprinting related to prenatal diagnosis, Prenat. Diagn., 14, 1191-1201.
11. Lindor, N.M., Jalal, S.M., Thibodeau, S.N., Bonde, D., Sauser, K.L., Karnes, P.S. (1993). Mosaic trisomy 16 in a thriving infant: maternal heterodisomy for chromosome 16, Clin. Genet., 44, 185-189.
12. Rosenblum-Vos, L.S., Robertson, A.E., Meyers, C.M., Cohen, M.M. (1993). Trisomy 16 mosaicism identified in mid-trimester amniocentesis and confirmed in fetal tissues, Am. J. Hum. Genet., 53, 1808 (Abstract).
13. Tantravahi, U., Matsumoto, C., Delach, J., Craffey, A., Smeltzer, J., Benn, P. (1996). Trisomy 16 mosaicism in amniotic fluid cell cultures, Prenat. Diagn., 16, 749-754.
14. Wolstenholme, J. (1995). An audit of trisomy 16 in man, Prenat. Diagn., 15, 109-121.
15. Wolstenholme, J. (1996). Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16 and 22: their incidence, likely origins, and mechanisms for cell lineage compartmentalization, Prenat. Diagn., 16, 511-524.