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Trisomy 12p due to familial t(12p-,6q+) translocation

โœ Scribed by J. P. Fryns; H. Berghe; G. Herck; J. J. Cassiman


Publisher
Springer
Year
1974
Tongue
English
Weight
406 KB
Volume
24
Category
Article
ISSN
0340-6717

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Partial trisomy (interchromosomal duplication) of the short arm of chromosome No. 12 was observed in an infant girl with psychomotor retardation, prominent forehead, ptosis of the right eyelid, esotropia/exotropia, flat nose, hypotonia and other anomalies. A comparison of her features with those in

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A malformed male newborn with partial trisomy for the distal part of the long arm chromosome 14 (14q23 leads to 14 qter) is described. This anomaly arose as a segregation product of a balanced t(14q-,11q+), translocation in the father.