case_images: PMC4068972_01
case_images: 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.
case_images: 1755-8166-7-40-1.jpg
case_images: PMC4068972_01_1755-8166-7-40-1.jpg
case_images: F1
case_images: 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.
case_images: 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).
case_images: 1755-8166-7-40-2.jpg
case_images: PMC4068972_01_1755-8166-7-40-2.jpg
case_images: F2
case_images: 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.
case_images: 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).
case_images: 1755-8166-7-40-3.jpg
case_images: PMC4068972_01_1755-8166-7-40-3.jpg
case_images: F3
case_images: 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).