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Updated: Jul 17, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 24, 2011
Structural chromosomal mosaicism and prenatal diagnosis
E Pipiras1, C Dupont, S Chantot-Bastaraud
1Service d'Histologie Embryologie Cytogénétique BDR, Hôpital Jean Verdier, Bondy, France.
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,XX[27]. 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.
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