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Partial X chromosome trisomy with functional disomy of Xp due to failure of X inactivation

✍ Scribed by Gustashaw, Karen M. ;Zurcher, Vickie ;Dickerman, Lois H. ;Stallard, Richard ;Willard, Huntington F.


Book ID
102702412
Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
833 KB
Volume
53
Category
Article
ISSN
0148-7299

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We report on a reciprocal translocation t(X;16)(q28;p12) detected in a newborn girl with clinical manifestations of partial trisomy 16p. A balanced translocation was found in the mother and in the maternal grandmother. Replication studies on lymphocytes and fibroblasts showed nonrandom X-inactivatio