Table 1.

Summary of Cases With Interstitial Deletions of the Chromosome 1p31.3 Region

Variable	Barton et al. [10], 1995	Campbell et al. [4], 2002; Lu et al. [7], 2007		Koehler et al. [5], 2010	Petti et al. [6], 2011	Chen et al. [8], 2011	Vauthier et al. [9], 2012	Rao et al. [11], 2013	Present Study
Time of diagnosis	Postnatal	Postnatal	Postnatal	Postnatal	Postnatal	Prenatal	Postnatal	Postnatal	Postnatal
Method of diagnosis	Karyotyping, FISH	Karyotyping, FISH	Karyotyping, FISH	aCGH	Karyotyping, aCGH	aCGH, FISH	aCGH, MPLC	Karyotyping, FISH, aCGH	aCGH
Deletion size	NR	12 Mb	12 Mb	4.93 Mb	3.2 Mb	22.2 Mb	80 Kb	0.12 Mb	8 Mb
Genes involved	NR	48	48	17	17	91	2	1	30
LEPR	NR	+	+	−	+	NR	+ (exon 1,2)	−	+
NFIA1	NR	+	+	+	−	+	−	+ (exon 4–9)	+
JAK1	NR	+	+	−	+	NR	−	−	+
Age, gender	18 mo, F	3 y, F	11 mo, M	0.5 y, F	15 y, M	30 wk GA, F	7 y, M	8 y, F	2 y, M
Phenotype
Abnormal corpus callosum	?	+	+	+	?	+	?	+	+
Hydrocephalus or ventriculomegaly	?	+	+	+	?	+	?	+	+
Pituitary abnormality	?	−	−	−	?	−	?	−	+
Dysmorphic features	+	+	+	+	+	+	+	+	+
Macrocephaly	−	+	+	+	−	+	−	+	−
Metopic synostosis	−	−	−	−	−	−	−	+	+
Developmental delay	+	+	+	?	+	NA	+	+	+
Urinary tract abnormality	?	+	+	−	?	?	?	+	−
Tethered spinal cord	?	+	+	−	?	−	?	−	+
Seizures	−	+	+	−	−	NA	+	−	+
Obesity	?	−	−	−	+	NA	+	+	−

Abbreviations: +, present; −, absent; ?, no investigations performed to rule it out; aCGH, array comparative genomic hybridization; F, female; FISH, fluorescence in situ hybridization; GA, gestational age; M, male; MPLC, multiplex polymerase chain reaction/liquid chromatography; NA, not applicable; NR, not reported.