Duplication 10q22.1-q25.1 due to intrachromosomal insertion: a second case.
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.
Goss
P W
PW
Department of Paediatrics, Gippsland Hospital, Sale, Australie.
Voullaire
L
L
Gardner
R J
RJ
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002879:Chromosomes, Human, Pair 10; D005145:Face / Q000002:abnormalities; D005260:Female; D020440:Gene Duplication; D006801:Humans; D007621:Karyotyping; D016254:Mutagenesis, Insertional