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Fig. 2 | Molecular Cytogenetics

Fig. 2

From: Prenatal diagnosis of Down syndrome combined with transient abnormal myelopoiesis in foetuses with a GATA1 gene variant: two case reports

Fig. 2

Case2 A–C: The 31-week ultrasound findings of the foetus. A The foetus had thickened skin on the head and chest. B Foetal ascites. C Foetal heart enlargement combined with pericardial effusion. D Electrophoretograms of multiplex QF-PCR amplification with STR markers on chromosomes 18, 13 and 21. Electrophoretic profiles observed for trisomy 21 foetus (red boxes). E Image from the Affymetrix Chromosome Analysis Suite Software showing trisomy 21. The location of the chromosomal repeat segments is denoted by the red boxes. (F) Identification of mutations in GATA1 by Sanger sequencing, as visualized by Chromas software. The base change is indicated by a red boxes. Mutation [NM_002049.4 c.49dupC(p. Gln17ProfsTer23)] was detected in the foetus

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Molecular Cytogenetics

ISSN: 1755-8166