1.
Am J Med Genet A
; 146A(11): 1497-501, 2008 Jun 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18449928
2.
Am J Med Genet A
; 120A(2): 247-52, 2003 Jul 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12833408
RESUMO
We report a patient with duplication of 9pter-q22 combined with duplication of 16q22-qter. The chromosome anomaly was the result of a 3:1 segregation of a maternal translocation (46,XX,t[9;16;21]). This newborn had intrauterine growth retardation and microcephaly, the characteristic recognizable pattern of trisomy 9p, cerebellar hypoplasia, a porencephalic cyst in the parieto-occipital region, and rocker-bottom feet. We compare the clinical features with another previously described case of duplication of an identical 9p segment combined with distal 16q duplication of a similar, but not identical segment, as well as with cases with duplication of either one of the two segments.