Top Abstract Purchase Related
Home
>
Node
>
Subnode

Duplication 16q12----qter arising from 3:1 segregation in a 46,XX,t (13;16) (q12;q12) mother

Pérez-Castillo, A.; Martin-Lucas, M.A.; Abrisqueta, J.A.

Annales de Genetique 33(2): 121-123

1990

ISSN/ISBN: 0003-3995
PMID: 2241087
Document Number: 355310
A congenitally abnormal female baby was found to have the karyotype 46, XX, +der (16) t (13; 16) (q12;q12) mat. GTG, QFQ, CBG, THA and Ag-NOR banding techniques allowed the identification of the abnormal chromosomes in the proposita and in the translocation carriers through three generations. Duplication 16q resulted from 3:1 segregation in the carrier mother. The hypothesis of a specific meiotic segregation for this translocation is discussed. The phenotypic effects of proximal 16q duplications are analysed together with other four reported cases, which have similar duplicated segment and no other relevant chromosomal abnormality.

Document emailed within 1 workday
Secure & encrypted payments

Francke, U.; Weber, F.; Sparkes, R.S.; Mattson, P.D.; Mann, J. 1977: Duplication 11 (q21 to 23 leads to qter) syndrome Birth Defects Original Article Series 13(3b): 167-186
Halasová, E.; Lukácová, M.; Bergendiová, E.; Kamenická, E. 1987: The clinical picture of 13q22-qter duplication in a 2-year-old boy Ceskoslovenska Pediatrie 42(8): 477-479
Ratanarapee, S.; Lohsiriwat, D. 1987: Adenocarcinoma arising in a duplication of the rectum: a case report and review of the literature Journal of the Medical Association of Thailand 70(5): 284-287
Mouzakis, O.; Korovesis, G.; Georgiadis, P.; Piagou, M.; Filippou, D.; Skandalakis, P. 2018: Adenocarcinoma arising in a rectal duplication cyst with distant metastasis A case report and a review of the recent literature Annali Italiani di Chirurgia 7
Demin, I.S.; Sefronova, I.D.; Baskevich, M.I. 1975: Analysis of deviation from Mendelian segregation (the segregation distortion phenomenon), for example, the t-alleles in mice Genetika 11(1): 59-65
Bronger, D. 2000: Chicago. Ethnische, wirtschaftliche, soziale und kulturelle Segregation in einer US-Megastadt - Chicago : ségrégation ethnique, économique, sociale et culturelle dans une mégalopole américaine Geographische Rundschau 52(6): 41-47
Peterson, R.D.; Krivo, L.J. 1999: Racial segregation, the concentration of disadvantage, and black and white homicide victimization - Ségrégation raciale, concentration des désavantages et victimes d'homicide au sein de la population blanche et de la population noire Sociological Forum (Randolph, N.J.) 14(3): 465-493
Shroufi, A.; Mafara, E.; Saint-Sauveur, J.François.; Taziwa, F.; Viñoles, M.Carmen. 2013: Mother to Mother (M2M) peer support for women in Prevention of Mother to Child Transmission (PMTCT) programmes: a qualitative study Plos one 8(6): E64717
Shroufi, A.; Mafara, E.; Saint-Sauveur, J.François.; Taziwa, F.; Viñoles, M.Carmen. 2013: Mother to Mother (M2M) peer support for women in Prevention of Mother to Child Transmission (PMTCT) programmes: a qualitative study Plos one 8(6): E64717
Shroufi, A.; Mafara, E.; Saint-Sauveur, J.François.; Taziwa, F.; Viñoles, M.Carmen. 2013: Mother to Mother (M2M) peer support for women in Prevention of Mother to Child Transmission (PMTCT) programmes: a qualitative study Plos one 8(6): E64717
Ganguly, B.B.; Dalvi, R.; Mehta, A.V. 2001: Translocation (3;12) (p21-pter; q24.1-qter) and phenylketonuria Cytobios 106(411): 63-70
Lukusa, T.; Devriendt, K.; Fryns, J.P. 1999: A 3p deletion syndrome in a child with both del(3)(p25-->pter) and dup(17)(q23-->qter) Annales de Genetique 42(2): 91-94
Andrle, M.; Erlach, A.; Schweizer, C. 1987: Inversion 8 and consecutive trisomy of region 8q22----qter Wiener Klinische Wochenschrift 99(18): 638-641
Snoke, A.W. 1952: Rooming-in for mother and child. General practitioner's point of view. Considerations on mother and child as a unit. Experiment with infant care on the side of mother Pediatria de Las Americas 9(12): 542-546
Ergun, M.A.; Balci, S.; Konaç, E.; Kan, D.; Menevşe, S.; Bartsch, O. 2004: Trisomy of 8q22.3 approximately q23-qter following an unbalanced 1;8 translocation in a boy with multiple anomalies Turkish Journal of Pediatrics 46(4): 384-387
Migliori, V.; Ferrari, F.; Giamagli, C.A.; DI Stefano, P.; Galanti, E.; Guastaferro, N. 1983: A case of 3q21-qter trisomy and 3p25-pter monosomy syndrome La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics 5(4): 237-239
Lucas, J.; Le Mée, F.; Picard, F.; Le Marec, B.; Junien, C. 1983: Pure trisomy 13q13-qter caused by aneusomic recombination of a maternal pericentric inversion Annales de Genetique 26(3): 187-190
Musiime, V.; Ssali, F.; Kizito, H.; Kityo, C.; Mugyenyi, P. 2007: Need for review of prevention of mother-to-child transmission practice especially in discordant couples: a case of mother-to-child transmission of HIV during breast feeding by a mother who tested HIV negative antenatally Aids 21(12): 1658-1659
Sanchez Molina, R. 2002: Homo infantilis: asimilación y segregación en la política colonial española en Guinea Ecuatorial - Homo infantilis: assimilation and segregation in the spanish colonial policy in Equatorial Guinea - Homo infantilis: assimilation et ségrégation dans la politique coloniale espagnole en Guinée Equatoriale Revista de Dialectologia y Tradiciones Populares 57(2): 105-120
Rosenmann, A.; Isacson, M.; Cohen, R.; Segal, M.; Cohen, M.M. 1978: Partial trisomy 18(q11 leads to qter) in an infant and aborted fetus resulting from a balanced paternal translocation t(13;18)(q32:q11) Annales de Genetique 21(1): 60-64