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Two sibs with partial trisomy 2q

✍ Scribed by Barnicoat, A. J.; Abusaad, I.; Mackie, C. M.; Robards, M. F.


Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
595 KB
Volume
70
Category
Article
ISSN
0148-7299

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✦ Synopsis


We report on two sibs with facial anomalies


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A case of partial trisomy 2(q21q33) detected by cordocentesis at 27 weeks' gestation in a polymalformed fetus is described. This is the second case of a prenatally detected de novo duplication of 2q and the first involving the region referred to above. 1997 by

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## Abstract We report on two new cases with a pure partial trisomy of the long arm of chromosome 7. Patient 1 was a female who showed cleft palate with retrognathia, cardiomyopathy, and pulmonary hypertension. Patient 2 was a male who showed microretrognathia, cleft palate, micropenis, camptodactyl