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Abstract
Partial trisomy 2p is a rare but relatively well-defined syndrome with distinctive clinical features, including marked psychomotor delay, dysmorphic face, and congenital heart disease. The phenotype of trisomy 18p is variable, from normal appearance to moderate mental retardation. Most cases of trisomy 2p and trisomy 18p result from the inheritance of an unbalanced segregant from a balanced parental translocation or due to de novo duplication. Here, we present the first report of a combined partial trisomy 2p and trisomy 18p due to a supernumerary marker chromosome (SMC). The final karyotype of the patient was 47,XX,+der(18)t(2;18)(p23.1;q11.1)[22]/46,XX[8]. The patient had typical dysmorphic features of partial trisomy 2p23-pter syndrome and congenital heart disease. SMCs are remarkably variable in euchromatic DNA content and mosaicism level. The precise identification of the origin and composition of SMCs is essential for genotype-phenotype correlation and genetic counseling.
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Fig. 2.
The ratio plots from array comparative genomic hybridization (aCGH) for chromosomes 2 and 18. The test sample was labeled with cyanine 3, and the reference sample was labeled with cyanine 5. Log2 ratio was calculated as log2(cy3)-log2(cy5), and a gain of particular clone is manifested as an upward deviation from the modal value 0.25. Gain of 46 clones on 2p and 30 clones on 18p were observed. The result of aCGH revealed arr 2p25.3p23.1(18,179-21,517,981)×3,18p11.32-18q11.1(59,690-17,039,831)×3.
Fig. 3.
FISH using whole chromosome painting probes (×1,000) of chromosomes 2 (labeled with Texas Red) and 18 (labeled with FITC) showed 2 signals of chromosomes 2 (red arrows), 2 signals of chromosome 18 (green arrows), and a small derivative chromosome comprising chromosomes 2 and 18 (yellow arrowhead).
Table 1.
Main clinical features in patients with partial trisomy 2p23-pter syndrome
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