PMC4068972_01
Photographs of the patient at age of 2 years and 3 months, frontal (a) and lateral (b) view. Note the tall forehead, anteverted nares, thin upper lip, anteverted ears and long philtrum.
1755-8166-7-40-1.jpg
PMC4068972_01_1755-8166-7-40-1.jpg
F1
She also had facial dysmorphism including frontal bossing, down slanting palpebral fissures, microstomia, long philtrum, prognathia, anteverted nostrils, low-set ears, short neck (Figure 1) and also bilateral clinodactyly of the fifth finger.
aCGH result shows the extend of the 19p13.2p13.12 deletion in the patient, with breakpoints at genomic positions 12,691,241-14,141,544 (GRCHh37/hg19).
1755-8166-7-40-2.jpg
PMC4068972_01_1755-8166-7-40-2.jpg
F2
In the absence of any etiological diagnosis, array-CGH analysis identified a 1.45 Mb deletion at 19p13.2p13.12 in the patient (Figure 2): 46,XX.arr[hg19]19p13.2p13.12(12,691,241-14,141,544)x1, GRCHh37/hg19.
FISH analysis of the 19p13.2-p13.12 deletion. Spectrum-orange labeled BAC clone RP11-782D11 and spectrum-green labeled 19q subtelomeric (CTD-2265021) probe (Tel 19q) used for identification of chromosomes 19. Arrow indicate the absence of orange signal on chromosome del(19)(p13.2 ~ 13.12p13.2 ~ 13.12).
1755-8166-7-40-3.jpg
PMC4068972_01_1755-8166-7-40-3.jpg
F3
Because of the necessity to compare with other cases we reanalyzed with the hg 18 Build 36 version and the breakpoints were: 12,552,241-14,002,544. (NCBI36/hg18) The deletion was confirmed by FISH analysis (Figure 3), and is considered to be do novo since neither parent carries the deletion (data not shown).