Table 1.

The deleted regions and the clinical manifestations in patients with the 15q24 deletion

	Case 1	Case 2	Case 3	Case 4	Van Esch et al. (2009)	Klopocki et al. (2008)	Sharp et al. (2007) IMR349	Sharp et al. (2007) C45/06	Sharp et al. (2007) ID204	Sharp et al. (2007) IMR371
del 15q24 (length)	72.252– 75.937 Mb (3.686 Mb)	72.130– 76.080 Mb (3.950 Mb)	70.750– 73.856 Mb (3.106 Mb)	70.708– 73.856 Mb (3.148 Mb)	70.6– 73.7 Mb (3.1 Mb)	72.2– 75.9 Mb (3.7 Mb)	72.15– 76.01 Mb (3.86 Mb)	72.15– 76.01 Mb (3.86 Mb)	72.15– 73.85 Mb (1.7 Mb)	70.40– 74.21 Mb (3.72 Mb)
Inheritance	De novo	Unknown	De novo	De novo	De novo	De novo	De novo	De novo	Unknown	De novo
Age and gender	33 months	5 months	14 years	9 years	33 years	10 years	14 years	14 years	33 years	15 years
	Male	Female	Male	Male	Male	Male	Male	Male	Male	Male
Growth	Short stature	Short stature	Normal growth	Obesity	Obese Macrocephaly	Obesity	Short stature Microcephaly IUGR	Short stature Microcephaly IUGR	Short stature Microcephaly IUGR	Normal growth
Development	Mild delay	MR	Delayed	Moderate MR	Severe MR	Mild MR	Mild MR	Mild MR	Mild MR	Mild MR
Face	High anterior hair line	Frontal bossing	Normal appearance	Asymmetry	High anterior hair line	High anterior hair line	High anterior hair line	High anterior hair line	High anterior hair line	High anterior hair line
	Broad forehead	Brachycephaly		Round face	Long face		Long narrow face	Asymmetry	Asymmetry	Asymmetry
					Small maxilla large mandible			Happy facial expression	Happy facial expression	Happy facial expression
										Long narrow face
Eye	Sparse eye brows			Normal appearance	Broad medial eyebrows	Broad medial eyebrows	Broad medial eyebrows	Broad medial eyebrows	Broad medial eyebrows	Broad medial eyebrows
		Hypertelorism			Hypertelorism		Hypertelorism	Hypertelorism	Hypertelorism	Hypertelorism
			Down-slanting palpebral fissures		Down-slanting palpebral fissures	Down-slanting palpebral fissures	Down-slanting palpebral fissures	Down-slanting palpebral fissures	Down-slanting palpebral fissures
	Epicanthus	Epicanthus	Epicanthus		Strabismus	Strabismus		Strabismus	Strabismus Epicanthus
Nose	Depressed nasal bridge	Broad upturned nasal tip	Normal appearance	Normal appearance	Broad nasal base	Hypoplastic nostrils	Broad nasal base	Broad nasal base	Small nose	Broad nasal base
							Flaring alae nasi	Flaring alae nasi	Hypoplastic alae nasi	Flaring alae nasi
Mouth	Long smooth philtrum	Small mouth	Small mouth	Smooth philtrum	Long smooth philtrum	Long smooth philtrum	Long philtrum	Long smooth philtrum	Long smooth philtrum	Long philtrum
	Full lower lip				High palate		Full lower lip	Full lower lip	Full lower lip	Full lower lip
					Bifid uvula
Ear	Ear lobe pit	Normal appearance	Thick, small ears	Cup-shaped protruding ears	Large ears	NA	Ear abnormalities	Ear abnormalities	Small everted ears	Hearing loss
			Ear lobe pit				Hearing loss
Nervous system	Hypotonia	Myelomeningocele Hydrocephalus	Hypotonia	Hypotonia	Hypotonia	Hypotonia	Wide basal cisterna on brain MRI	Hypotonia	NA	NA
								Dysplastic corpus callosum on brain MRI	NA	NA
								Seizure
Genital	Normal	Normal	Hypospadias	Microphallus	Microphallus Cryptorchidism	Microphallus	Normal	Hypospadias	Hypospadias	Hypospadias
Skeletal	No abnormalities	Clubfeet	Joint laxity	Joint laxity	Scoliosis	Joint laxity	Joint laxity	Scoliosis	Joint laxity	Joint laxity
			Pectus carinatum	Pes planus	Clubfeet	Lumbar lordosis Genua valga	Scoliosis			Narrow chest Pes cavus
Digital anomalies	Small hands	Overriding second toes	Long first toes and short second toes	Brachymesopalangy II and V	Long slender fingers with distal tapering	Broad thumb	Long slender fingers	Proximally implanted thumbs	Small hands	Hypoplastic right thumb
		Clinodactyly		Clinodactyly		Brachydactyly	Proximally implanted thumbs		Brachydactyly	Contractures of fingers
						Clinodactyly
Respiratory	No symptoms	No symptoms	Recurrent ear infections	Recurrent ear infections	High pitched voice	Nasal speech	Recurrent ear infections	Low tone voice	Recurrent upper airway infections	Recurrent chest infections
			Velo-pharyngeal insufficiency			Hoarse voice				Asthma
			Soft nasal speech			Clinodactyly
Other	Acute lymphoblastic leukemia	Tetralogy of Fallot	Café au lait spots	Aggressiveness	Hyperactivity Aggressiveness	Inguinal and umbilical hernia	Attention deficit hyperactivity disorder	Edema of extremities	Feeding difficulties as child	Diaphragmatic hernia
	Feeding difficulties		Feeding difficulties	Cafe-au-lait spots	Diaphragmatic hernia	Skin laxity	Autistic features	GH deficiency		Inguinal hernia
	Hepatomegaly			Acanthosis nigricans	Inguinal hernia	Splenomegaly	GH deficiency	Hypogonado-tropic hypogonadism
							Delayed puberty Bowel atresia	Bowel atresia

NA not reported, MR mental retardation, IUGR intrauterine growth restriction