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Abstract
A 15q25-qter partial trisomy characterized by pre or postnatal overgrowth, tall stature, macro-cephaly and craniosynostosis has rarely been reported. The cause of overgrowth has been thought to be the triplication of the insulin-like growth factor 1 receptor (IGF1R) gene located on the 15q26.3. We report a patient with partial trisomy 15q25.3-qter showing mental retardation, developmental delay, macrocephaly, long narrow face, ptosis, high palate arch, scoliosis, clinodactyly and overgrowth. Additional material located on terminal 2q was found in karyotyping analysis. In bacterial artificial chromosome (BAC) clone-based-array comparative genomic hybridization (aCGH) analysis, a gain of 31 clones on 15q25.3-qter and a loss of 2 clones on 2q37.3 were observed. An extra copy of IGF1R gene was observed on derivative chromosome 2 in FISH analysis. In conclusion, the patient was diagnosed to have de novo 46,XX,der(2)t(2;15)(q37.3;q25.3) chromosome complement. Adequate genetic counseling and regular follow-ups would be needed for the patient.
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Fig. 1.
Photographs of the patient. Note long and triangular face, low-set ears, flat nasal bridge, and ptosis (A); and long fingers and clinodactyly of 4th and 5th fingers of both hands (B).
Fig. 3.
The ratio plots from array comparative genomic hybridization (aCGH). Normalized data in which the test sample was labeled with cyanine 3 are shown in blue, while that in which the test sample was labeled with cyanine 5 are shown in red. A gain of a particular clone is manifested as a positive (upward) deviation of the blue signal from modal value 0.25 and a negative (downward) deviation of the red signal from −0.25 for same clone. Conversely, a loss of a clone shows the opposite pattern. (A) A two-clone loss on 2q37.3 (arrows) and (B) a thirty one-clone gain on 15q25.3-qter (between arrows) are found.
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