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Unique mosaicism of structural chromosomal rearrangement: Is chromosome 18 preferentially involved?

✍ Scribed by de Pater, J.M. ;Smeets, D.F.C.M. ;Scheres, J.M.J.C.


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
133 KB
Volume
119A
Category
Article
ISSN
0148-7299

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Structural abnormalities of chromosome 18p mainly consist of isochromosomes of the short arm, which result in tetrasomy 18p. Trisomy 18p is much rarer, and less well characterized. We report on a 12-year-old girl with minor facial anomalies, delayed development, abnormal hands, atopic dermatitis, an