PMC5568194_01
Cytogenetic analyzes. A: GTG-banding result after initial amniocentesis; the aberrant clone with the extra marker chromosome (arrow) is shown; B:FISH-result identifying the sSMC (arrow) as a i(18p); probes used were subtleomeric probe for 18pter (subtel 18pter) and centromirc probe for chromosome 18 (cen 18); C: Array-CGH-result showing the gain of copy numbers of the whole short arm of chromosome 18
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F1
Unexpectedly an abnormal karyotype of 47,XX,+mar dn[36]/46, XX[4] was found after GTG banding analyzes from two separate amniocyte cultures (Fig. 1A). Fluorescence in situ hybridization (FISH) using subtelomeric and centromeric probes (Abbott, USA) confirmed the karyotype results and identified the sSMC as an i(18)(pter- >q11.1: q11.1- >pter), in short I (18p) (Fig. 1B). An 18.4 Mb gain on chromosome 18p11.32q11.2 was confirmed, compatible with tetrasomy for the mentioned region (Fig. 1C).
Photographs of the index patient after abortion. The extra finger on the right hand is highlighted by an arrow
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F2
In limb examination, joint contracture of the lower limbs and digital anomalies including long and narrow toes with clinodactyly of the 1st and 5th toes and postaxial polydactyly of one hand was seen (Fig. 2).