dup(17)(q21.31q21.31)

Epidemiology and Etiology:

· 1 patient described so far

· 10 y. female

· NAHR

Common sites:

·

Gross features:

· Delayed growth after birth

· Microcephaly

· Facial dysmorphisms

· Abnormal digits

· Short and broad digits and thumbs

· Broad feet with a long first toe

· Hirsuitism

·

Histologic features:

·

Immunophenotype:

Marker:

Sensitivity:

Specificity:

Molecular features:

· 485 kb duplication

· MAPT gene likely important

· NAHR between H1 and H2 haplotypes

Other features:

· Severe DD

·

References:

· Slavotinek AM. Novel microdeletion syndromes detected by chromosome microarrays. Hum. Genet. 2008;124(1):1-17.