INTRODUCTION
There have been few patients reported with both partial duplication of
3p and partial deletion of 9p due to an unbalanced translocation with
variable breakpoints (Figure S1) (Fryns et al., 1986; Õunap et al.,
2004; Witters et al., 2004). Two prior reports of individuals with
similar unbalanced translocations to the patients in this report,
suggested that the clinical features overlap with those of individuals
with isolated 3p duplications and 9p deletions; however, they are
generally milder than expected for the degree of imbalance (Game et
al.,1990; McClure et al., 1996) .
Patients with 3p duplications have variable clinical features that
include intellectual disability, hypotonia, short stature, heart defects
and facial features such as brachycephaly, microcephaly, square face,
hypertelorism, wide and depressed nasal bridge, short nose, full cheeks,
and cleft lip with and without cleft palate. (Bittel et al., 2006;
Natera-de Benito et al., 2014; Smeets et al., 2001).
Clinical features of the 9p deletion syndrome, (OMIM #158170), include
developmental and psychomotor delay, hypotonia, widely spaced nipples,
and dysmorphic facial features, such as midface hypoplasia, short
palpebral fissures, hypertelorism, depressed nasal bridge and
micrognathia (Alfi et al., 1973; Hauge et al., 2008; Huret et al., 1988;
Swinkels et al., 2008). A significant number of patients with a distal
9p deletion with a male karyotype exhibit disorders of sex development
(DSD) (Barbaro et al., 2009; Õunap et al., 2004).
Here, we report a brother and sister with the same male karyotype with
an unbalanced translocation resulting in partial duplication of 3p and
distal deletion of 9p. Both patients’ clinical features include those
seen in 3p duplication and 9p deletion, including abnormal sex
development.