A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay

Table 1 Summary of clinical features and cytogenetic characteristics of the reported patients with 19p13 deletion overlapping with our patient

Patient	Present patient	Bonaglia et al. [4] Patient 3	Auvin et al. [2]	Lysy et al. [1]	Clinical score
Gender	Female	Male	Male	Female
Chrom.region	19p13.2-p13.12	19p13.13-p13.12	19p13.13	19p13.2-p13.13
Deletion size Mb	1.45 Mb	1.5 Mb	664 Kb	3 Mb
Position (hg18)	12.55-14.00	12.87-14.15	12.61-13.28	10.25-13.18
At birth
Weight	< 3rd	< 3rd	Normal	-2SD
Length	< 3rd	< 3rd	Normal	-2SD
OFC	50th	10-15th	Normal	-2SD
At last evaluation
Age	2^3/12 years	7 years	2 years	3^8/12 years
Weight	>95 th	50th	+2SD	-2SD
Length	95 th	75th	+3SD	-2SD
OFC	95 th	50th	+2,5SD	-2SD
Clinical features
Hypotonia	Severe	+	+	+	4/4
Psychomotor delay	+	Moderate- severe	+	+	4/4
Language delay	+	+	+	+	4/4
Seizure/EEG anomalies	+	+	+	+	4/4
Hearing loss	-	Bilateral conductive	-	Bilateral threshold 60 dB	2/4
Skeletal	Advanced bone age	Scoliosis	Advanced bone age	Craniocynostosis with left spleno-orbital dysplasia	4/4
Extremities	Clinodactyly V	ClinodactylyV right hand, left I and II toes overlapping bracydactyly	-	-	2/4
Facial features
Brachycephaly	+	+	-	-	2/4
Philtrum	long	long	-	-	2/4
Nose	Anteverted nares	Anteverted nares	Flat	-	3/4
Ocular anomalies	Strabismus	-	-	strabismus	2/4

ISSN: 1755-8166