Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t(13;15): dosage effect of IGF1R?

@article{Nagai2002PostnatalOB,
  title={Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t(13;15): dosage effect of IGF1R?},
  author={Toshiro Nagai and Osamu Shimokawa and Naoki Harada and Satoru Sakazume and Hirofumi Ohashi and Naomichi Matsumoto and Kazuo Obata and Atsunori Yoshino and Nobuyuki Murakami and Takayasu Murai and Ryoichi Sakuta and Norio Niikawa},
  journal={American journal of medical genetics},
  year={2002},
  volume={113 2},
  pages={173-7}
}
We report a 4-year-old boy, a 6-month-old girl, and a 17-week-old fetus all with a chromosomal imbalance derived from a balanced translocation t(13;15)(q34;q26.1) of their father. The boy had a partial trisomy for 15q26.1-qter (46,XY,der(13)t(13;15)(q34;q26.1)) and postnatal overgrowth, as well as craniosynostosis, facial anomalies, and finger joint contractures, while the girl with the same chromosomal aberration did not show overgrowth, although she had similar craniofacial and skeletal… CONTINUE READING
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