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Monosomy 22 in a Fibrothecoma

✍ Scribed by Paola Dal Cin; Heng Qi; Patrick Pauwels; Carolina Backx; Herman Van den Berghe


Book ID
114136312
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
255 KB
Volume
99
Category
Article
ISSN
0165-4608

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We describe an abnormal premature male infant with mosaic monosomy of chromosome 22. He had a unique facial appearance, similar to those with DiGeorge syndrome, and hypertonicity, limitation of extension at major joints, and flexion contractures of all fingers. This rare chromosomal aberration has b