De novo unbalanded T(11Q;21Q) leading to a partial monosomy 21PTER-Q22.2 and 11Q24-QTER in a patient initially diagnosed as monosomy 21 (2001)
- Authors:
- USP affiliated authors: PERES, LUIZ CESAR - FMRP ; PINA NETO, JOÃO MONTEIRO DE - FMRP
- Unidade: FMRP
- Subjects: ACONSELHAMENTO GENÉTICO; CROMOSSOMOS HUMANOS
- Language: Inglês
- Imprenta:
- Source:
- Título: Genetic Counseling
- ISSN: 1015-8146
- Volume/Número/Paginação/Ano: v. 12, n. 1, p. 69-75, 2001
-
ABNT
RIEGEL, M. et al. De novo unbalanded T(11Q;21Q) leading to a partial monosomy 21PTER-Q22.2 and 11Q24-QTER in a patient initially diagnosed as monosomy 21. Genetic Counseling, v. 12, n. 1, p. 69-75, 2001Tradução . . Acesso em: 09 jan. 2026. -
APA
Riegel, M., Baumer, A., Piram, A., Ortolan, D., Peres, L. C., & Pina Neto, J. M. de. (2001). De novo unbalanded T(11Q;21Q) leading to a partial monosomy 21PTER-Q22.2 and 11Q24-QTER in a patient initially diagnosed as monosomy 21. Genetic Counseling, 12( 1), 69-75. -
NLM
Riegel M, Baumer A, Piram A, Ortolan D, Peres LC, Pina Neto JM de. De novo unbalanded T(11Q;21Q) leading to a partial monosomy 21PTER-Q22.2 and 11Q24-QTER in a patient initially diagnosed as monosomy 21. Genetic Counseling. 2001 ; 12( 1): 69-75.[citado 2026 jan. 09 ] -
Vancouver
Riegel M, Baumer A, Piram A, Ortolan D, Peres LC, Pina Neto JM de. De novo unbalanded T(11Q;21Q) leading to a partial monosomy 21PTER-Q22.2 and 11Q24-QTER in a patient initially diagnosed as monosomy 21. Genetic Counseling. 2001 ; 12( 1): 69-75.[citado 2026 jan. 09 ] - Study of birth defects detected in a series of 2019 consecutive pediatric autopsies
- DNA extraction and quantification from touch and scrape preparations obtained from autopsy liver cells
- Mortality due congenital anomalies: a review of consecutives cases in a period of 10 years
- Anomalias congenitas em uma série de 279 necrópsias pediátricas
- Estudo citogenético em crianças com anomalias congênitas submetidas à necropsia no HC-FMRP-USP, no período de novembro de 1996 a novembro de 1999
- Relato de um caso de osteocranioestenose com provável padrão de transmissão autossômico recessivo
- Monossomia parcial do 21 por t(11q;21q): estudo por citogenética convencional e por fish
- Post-mortem studies in lysosomal storage disorders
- Splenopancreatic field abnormality is not unique to trisomy 13
- Caudal dysplasia sequence: severe phenotype presenting in offspring of patients with gestational and pregestational diabetes
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas