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Normal adaptive function with learning disability in duplication 8p including band p22

✍ Scribed by Brooks, Susan Sklower; Genovese, Marilyn; Gu, Hong; Duncan, Charlotte J.; Shanske, Alan; Jenkins, Edmund C.

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
18 KB
Volume
78
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19980630)78:2<114::aid-ajmg3>3.0.co;2-o

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✦ Synopsis

Duplication 8p usually results in a syndrome characterized by profound mental retardation, mild facial anomalies, and malformations of hand, heart, and brain. We report on a large kindred segregating a Y;8 translocation in whom several individuals have duplication 8p22β†’8pter. These individuals have normal adaptive function despite their unbalanced karyotype. The family was studied with G-banding and fluorescent in situ hybridization (FISH) using probes to chromosomes 8 and Y. Comparison of this family with other reported cases defines a mild clinical outcome for trisomy 8p22β†’8pter in contrast to the severe findings when the duplication involves a longer, more proximal segment. Am.

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