A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation

Table 1

Phenotypic features of Decipher patients with a deletion that overlaps with our case.

Decipher code	263218 (our case)	249924	282282	4587	266456	279188	Patient 1; [3]	2154; Patient 2 [3]	248887; Patient 3 [3]
From (bp); To (bp); Size (Mb); Inheritance	28,963,865; 31,955,272; (3.4); De novo	29,067,457; 32,582,340; (3.51); De novo	29,226,273; 31,540,272; (2.31); Paternal^*	29,851,616; 31,096,830; (1.25); Unknown	30,774,028; 31,810,638; (1.04); De novo	30,770,760; 31,844,755; (1.07); De novo	30,880,255; 32,462,46; (1.58); De novo	30,768,420; 32,166,016; (1.4); De novo	30,805,425; 32,533,8; (1.73); De novo
Age (yrs)	5	15	11	?	2	0	19	12	12,5
Height	3rd cent					Growth ret.	3rd–10th cent	25th–50th cent	<3rd cent
Weight			Obesity				25th–50th cent	25th–50th cent	<3rd cent
Microcephaly	OFC: 10th cent		+	+		+	n.a.	OFC: 25th cent	−
Ears	Large			Large					Hearing loss
Wide set, large eyes	+			−			+	+	+
Puffy eyelids	+						+	+	+
Eyes, others	Normal vision					D.p.f	Hypermetropia	Hypermetropia	Hypermetropia
Narrow nasal bridge	+			+			+	+	+
Underdeveloped alae nasi	+						+	+	+
Low insertion columella	+			+			+	+	+
Thin vermilion upper lip	+						+	+	+
Oligodontia	−						+	−	+
Thorax	Mild pectus excavatum			Pectus excavatum
Atopic dermatitis	One episode of cutaneous rash						+	+	+
Skin	Two haemangiomas			Spotty hyperpigm
Others			Metatarsus adductus; hypogonadism	2-3 toe syndactyly	Cutaneous finger syndactyly		Hip dysplasia; cryptorchidism	Congenital hernia of diaphragm	Asymmetry legs
Intellectual deficit	+		+	+	+	+	+	+	+
Language delay	+		+		+	+	+	+	+
Behavioural abnormalities	−		ADHD	Hyperactivity			Hyperactivity	Hyperactivity	Hyperactivity
Hypotonia	+
Neurological features			Hyperreflexia

Note: ADHD: attention deficit hyperactivity disorder. n.a.: not available. del: deletion. Asterisk indicates that the father of patient 282282 was affected. hyperpigm: hyperpigmentation. D.p.f.: Downslent palpebral fissures; Phanotype of 249924 was not available; Growth ret.: growth retardation.