A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability

Table 1

Genomic coordinates and clinical features of all cases.

	Buiting et al., 2008 [2]	Béna et al., 2010 [1]	Present case
Deletion positions (Mb) in chromosome 14 (hg 19)	100.396–101.502	100.400–101.500	100.388–101.506
Sex	Female	Female	Female
Age (years)	14 14	4	20
Pre- and postnatal growth retardation	+	+	+
Hypotonia	+	+	+
Feeding problems	+	+	+
Precocious puberty	+	?	+
Intellectual disability	+	+	+
Dysmorphism	−	High forehead, small chin, posteriorly rotated ears, and flat feet	Flat face, flat philtrum, thin lips, tapering fingers, clinodactyly of the fifth finger on the right hand, and clubbing feet toes
Others	−	Hypermetropia	−

+: present; −: not present; ?: undetermined yet.