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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Coonen E, Martini E, Dumoulin J C M, Hollanders-Crombach H T M, de Die-Smulders C, Geraedts J P M, Hopman A H N, Evers J L H.: Preimplantation genetic diagnosis of a reciprocal translocation t(3;11)(q27.2;q24.3) in siblings. Mol. Hum. Reprod. 6:199-206, 2000. [PubMed: 10694265]
Martini E, von Bergh A R M, Coonen E, de Die-Smulders C E M, Hopman A H N, Ramaekers F C S, Geraedts J P M.: Detection of structural abnormalities in spermatozoa of a translocation carrier t(3;11)(q27.3;q24.3) by triple FISH. Hum. Genet. 102:157-165, 1998. [PubMed: 9521583]
Willekes C, Roumen F J M E, van Elsacker-Niele A M W, Weiland H T, Vermey-Keers C, van Kriekens J H J M, de Die-Smulders C E M, Hamers G J H, Vaes-Peters G P M: Human parvovirus B19 infection and unbalanced translocation in a case of hydrops fetalis. Prenat. Diag. 14:181-185, 1994. [PubMed: 8052566]15/18 embryos revealed an unbalanced karyotype in which a male parent was carrier of the translocation. A singleton pregnancy was achieved and a normal healthy girl with a balanced karyotype was born!46,XX,t(3;11)(q27.3;q24.3).,46,XY,der(11)t(3;11)(11pter->11q24.3::3q27.3->3qter)mat.The mother had two previous spontaneous abortions. Fetal death was noticed in this pregnancy at 23rd week of gestation; and labor was induced. A grossly macerated fetus with a flat nose and low implanted ears was delivered.Proband=46,XY,der t(3;11)(q27.3;q24.3)mat.,Proband''s mother and his sister=46,XX,der t(3;11)mat.,Fetus=46,XX,der(11)t(3;11)pat.The pregnancy was interrupted because the fetus had MCA. There were multiple miscarriages in this family.The authors concluded that structural aberrations can be reliably assessed in interphase spermatozoa by using unique FISH-DNA probe cocktails.Aberration: Reciprocal translocationChromosomal Aneuploidy: 3q+,11q-Index Terms: Hydrops fetalis,ParvovirusNegative band - Yatsenko S A, Mendoza-Londono R, Belmont J W, Shaffer L G.: Omphalocele in trisomy 3q: further delineation of phenotype. Clin. Genet. 64:404-413, 2003. [PubMed: 14616763]Proband=46,XY,der(4)t(3;4)(q27.3;q32.3)mat.,Mother=46,XX,t(3;4)(q27.3;q32.3).Aberration: Reciprocal translocationChromosomal Aneuploidy: 3q+Index Terms: Omphalocele
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