Structural chromosomal mosaicism and prenatal diagnosis |
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| Authors: | E Pipiras C Dupont S Chantot-Bastaraud J P Siffroi M Bucourt A Batallan C Largillière M Uzan J P Wolf B Benzacken |
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| Institution: | 1. Service d'Histologie Embryologie Cytogénétique BDR, Hôpital Jean Verdier, Bondy, France;2. Service d'Histologie, Biologie de la Reproduction et Cytogénétique, Hôpital Tenon, Paris, France and Laboratoire de Cytologie Histologie, UFR Biomédicale, Paris, France;3. Service de Foetopathologie, Hôpital Jean Verdier, Bondy, France;4. Service de Gynécologie-Obstétrique, Hôpital Jean Verdier, Bondy, France |
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| Abstract: | True structural chromosomal mosaicism are rare events in prenatal cytogenetics practice and may lead to diagnostic and prognostic problems. Here is described the case of a fetus carrying an abnormal chromosome 15 made of a whole chromosome 2p translocated on its short arm in 10% of the cells, in association with a normal cell line. The fetal karyotype was 46,XX,add(15)(p10).ish t(2;15)(p10;q10)(WCP2+)3]/46,XX27]. Pregnancy was terminated and fetus examination revealed a growth retardation associated with a dysmorphism including dolichocephaly, hypertelorism, high forehead, low-set ears with prominent anthelix and a small nose, which were characteristic of partial trisomy 2p. Possible aetiologies for prenatal mosaicism involving a chromosomal structural abnormality are discussed. Copyright © 2004 John Wiley & Sons, Ltd. |
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| Keywords: | structural chromosomal mosaicism trisomy 2p prenatal diagnosis |
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