TRISOMY 1Q42-]QTER IN A SISTER AND BROTHER - FURTHER DELINEATION OF THE TRISOMY 1Q42-]QTER SYNDROME
作者： Corien C. Verschuuren-Bemelmans , Beike Leegte , Thea M. J. Hodenius , Jan M. Cobben
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摘要: We report on a 22-year-old woman and her al-year-old brother with mild mental retardation, long face, prominent forehead, retrognathia, (relative) macrocephaly. At birth they were small for date, their length is now below the 10th centile. Chromosome analysis demonstrated nearly pure trisomy 1q42-->qter in both patients due to unbalanced segregation of paternal reciprocal balanced translocation 46, XY, t(1;15) (q42;p11). This second 1q42-->qter. When comparing manifestations our those other reported cases we conclude that most characteristic clinical this syndrome are macrocephaly, micro/retrognathia, large fontanelle, intrauterine growth postnatal retardation. (C) 1995 Wiley-Liss, Inc.
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