A de novo 1.6Mb microdeletion at 19q13.2 in a boy with Diamond-Blackfan anemia, global developmental delay and multiple congenital anomalies

Table 1 Clinical features observed in patients with 19q13.2 deletion

Phenotypic characteristic	Our patient	Cario et al.	Tentler et al.
Sex	Male	Male	Male
Age	2 years 2 months	13 months	12 years
Size of the deletion (Mb)	1.6 Mb	about 3.0 Mb	about 3.2 Mb
Genomic location	chr19:42306042-43906653	19q13.2q13.31	19q13.2q13.31
Methods	microarray	interphase FISH	fibre-FISH
Diamond-Blackfan Anemia	+	+	+
Feeding difficulties	+	NR	NR
IUGR	+	NR	NR
Global developmental delay
Growth delay (short stature)	+	+	+
Delayed motor development	+	+	+
Language delay	+	+	+
Cognitive impairments	+	+	+
Craniofacial features
Macrocephaly	-	+	+
Cranial deformities	+	+	+
Broad forehead	+	+	NR
Auricle dysplasia	+	+	NR
Hypertelorism	+	+	NR
strabismus	+	+	NR
Broad nose with depressed nasal bridge	+	+	NR
Thick lips	+	+	NR
Teeth dysplasia	+	NR	NR
Open-mouthed expression	+	+	NR
Drooling	+	+	NR
Skeletal abnormalities	+	+	+
Genital anomalies	+ (small testes)	+ (cryptorchidism)	NR
Hypotonia	+	+	NR
Behavior problems	+	+	NR
Body temperature dysregulation	+	NR	NR

ISSN: 1755-8166