Search results for "Monosomy 6q"

Partial trisomy 9p and partial monosomy 6q resulting from paternal reciprocal translocation 6;9: Overlapping manifestations of characteristic phenoty…

2003

We report on a female infant with partial trisomy 9p (p13.3→pter) and monosomy 6q (q26-qter) resulting from a paternal balanced reciprocal traslocation t(6;9)(q26;p13.3). Both trisomy 9p and monosomy 6q are recognized phenotypes with characteristic patterns of anomalies. This patient is the first reported with a partial deletion 6q and a partial duplication 9p resulting in an overlapping phenotype including intrauterine growth retardation (IUGR), craniofacial and skeletal abnormalities, congenital heart defect, hypotonia and developmental delay. We present the clinical follow-up of this patient from birth to age 4 years: the phenotypic manifestations of trisomy 9p syndrome are mildly expres…