PMC4265435_01
Views of the patient at the age of 5 years and 5 months. (a) Frontal view of the face of the patient. Incomplete soft cleft palate surgically corrected at the age of 14 months. (b) Dorsal view of the hand of the patient showing clinodactyly of 5th finger. (c) Frontal view of the patient showing the widely spaced nipples.
13039_2014_92_Fig1_HTML.jpg
PMC4265435_01_13039_2014_92_Fig1_HTML.jpg
Fig1
She remained sociable with mild microcephaly (HC = 48 cm, 3rd percentile) and the same mild dysmorphic features (small eyes with marked epicanthus, moderate micrognathia, widely spaced nipples and clinodactyly of 5th finger) (Figures 1b and c).
A karyotype showing the unbalanced translocation between the two chromosomes 13 and 14.
13039_2014_92_Fig2_HTML.jpg
PMC4265435_01_13039_2014_92_Fig2_HTML.jpg
Fig2
The karyotype according to ISCN was 46,XX,der(13;14)(q12.11;qter)dn (Figure 2).
Array-CGH profile of chromosome 13 showing a 2.9 Mb interstitial deletion. At the top, the enlarged view of the rearrangement as provided by Agilent Technologies, CGH Analytics 3.5.14.
13039_2014_92_Fig3_HTML.jpg
PMC4265435_01_13039_2014_92_Fig3_HTML.jpg
Fig3
Molecular karyotyping revealed a deletion on the long arm of chromosome 13 as involving sub-bands 13q12.11, a deletion of about 2.9 Mb (chr13: 19938561-22840254) (Figure 3).