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Duplication 10q22.1-q25.1 due to intrachromosomal insertion: a second case
P W Goss1, L Voullaire, R J Gardner
1Department of Paediatrics, Gippsland Hospital, Sale, Australie.
Annales De Genetique
|December 2, 1998
Abstract:
This is the second reported case of duplication for the segment 10q22.1-q25.1, the first having been in a fetal case. The phenotype is documented in a 12 year old girl, who is mentally retarded and has a distinctive facial dysmorphology.