Partial Trisomy 9p(p22→pter) from a Maternal Translocation 4q35 and 9p22

Abstract

We present clinical and cytogenetic data on a 7-year-old female child with partial trisomy for 9p22→9pter as a result of a maternal balanced reciprocal translocation. Her karyotype was ascertained as 46,XX,dec(4)t(4;9)(q35; p22)mat. The father had a normal karyotype, while the mother had an apparently balanced translocation involving chromosomes 4 and 9 [46,XX,t(4;9)(q35;p22)]. This case will be briefly compared with other published cases of a similar translocation.

Characterization of a Complex Chromosomal Rearrangement Involving a de novo Duplication of 9p and 9q and a Deletion of 9q

“…Our patient, with a duplication of 11.6 Mb from 9p24.2 to 9p23 that involves 9 OMIM disease-causing genes ( table 1 ), displays some common features of dup(9p), such as upslanting palpebral fissures, downturned corners of the mouth and developmental delay. A previous study compared several published cases of partial dup(9p), suggesting that the 9p24 region contains genes that may be responsible for some of the facial malformations in the nose, mouth and ears [Mahjoubi et al, 2011].…”