Publication: Partial Trisomy of Chromosome 18 (pter→q12) following a Familial 18;21 Translocation rcp(18;21)(q12;q11)
Partial Trisomy of Chromosome 18 (pter→q12) following a Familial 18;21 Translocation rcp(18;21)(q12;q11)
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Binkert, F., Stranzinger, J., & Schinzel, A. (1990). Partial Trisomy of Chromosome 18 (pter→q12) following a Familial 18;21 Translocation rcp(18;21)(q12;q11). Human Heredity, 40, 81–84. https://doi.org/10.1159/000153910
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A 1-year-old boy with trisomy 18 (pter→q12) following a paternal balanced translocation revealed microcephaly, a pattern of minor dysmorphic features including upslanting narrow palpebral fissures, receding forehead, large nose and receding mandible, cryptorchidism, flexion contractures of fingers, a cardiac malformation and moderate mental retardation. While pure trisomy 18p generally goes along with a near-normal phenotype, additional trisomy of only a short segment of the proximal long arm 18 has a distinct negative influence on th
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- Binkert, Franz
- Stranzinger, Johanna
- Schinzel, Albert
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Binkert, F., Stranzinger, J., & Schinzel, A. (1990). Partial Trisomy of Chromosome 18 (pter→q12) following a Familial 18;21 Translocation rcp(18;21)(q12;q11). Human Heredity, 40, 81–84. https://doi.org/10.1159/000153910