Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

Cuscó, Ivon; del Campo, Miguel; Vilardell, Mireia; González, Eva; Gener, Blanca; Galán, Enrique; Toledo, Laura; Pérez-Jurado, Luis A

doi:10.1186/1471-2350-9-27

Table 1 Summary of major clinical findings in Kabuki patients.

From: Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

Sample	KS1	KS2	KS3	KS4	KS5	KS6	KS7	KS8	KS9	KS10	KS11	KS12	KS13*	KS14 *	KS15	KS16	2q37.3 deletion
Age	20 months	5 years	10 years	10 years	4 years	7 years	2 years	2 years	8 years	8 months	12 years	10 years	20 years	17 years	8 years	8 months
Gender	Female	Female	Male	Female	Male	Female	Male	Male	Male	Male	Male	Male	Female	Male	Male	Female
Prenatal growth restriction	+	-	+	-	-	+	-	-	+	-	-	-	-	-	-	+	-
Postnatal growth restriction	+	-	-	-	-	+	+	+	-	-	-	+	-	+	-	+	+
Microcephaly	-	-	-	+	-	-	+	-	+	+	-	+	-	-	-	+	+
Craniofacial abnormality
Prominent forehead	-	+	-	-	-	-	-	-	-	-	-	-	-	+	-	-	+
Long palpebral fissures	-	-	-	-	+	+	+	+	+	+	-	+	+	+	+	+	-
Lower palpebral eversion	-	-	+	-	-	-	+	-	+	-	+	+	+	+	+	+	-
Arched eyebrows	-	+	+	+	+	-	+	-	-	-	-	-	+	+	-	+	+
Deep set eyes	-	-	-	-	-	-	-	-	-	-	-	-	-	+	-	-	+
Blue sclerae	+	+	+	-	+	-	+	-	-	+	-	-	-	-	-	+	-
Short, upturned nose	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	+
Depressed nasal tip	+	+	+	+	+	+	+	-	+	+	-	+	-	+	-	+	-
Preauricular pit	-	-	-	-	-	-	-	-	-	-	-	+	-	-	-	-	-
Prominent or dysmorphic ears	+	+	+	-	+	+	+	+	+	-	-	+	+	+	-	+	+
Cleft palate	BU	-	-	-	BU	-	-	-	BU	-	-	-	-	-	+	+	-
Tented upper lip	-	+	+	+	+	-	+	-	-	+	+	+	+	-	+	-	-
High-arched palate	+	-	-	+	-	+	+	+	+	-	-	+	+	+	+		+
Strabismus	-	+	-	-	-	-	-	mo	-	-	-	+	+	-	-		+
Abnormal Dentition	-	+	-	-	-	-	-	-	-	-	+	-	+	+	-		-
Skeletal abnormality
Brachydactyly one finger or general	+	+	+	+	+	+	+	-	-	-	-	+	+	-	-	+	+
Short 5th finger with clinodactyly	-	-	+	+	-	-	-	-	-	-		+	+	-	-	+	-
Abnormal vertebrae/ribs	-	RH	-	-	-	-	-	-	-	TR	-	-	+	DR	-		+
Scoliosis	-	-	-	-	-	-	-	-	-	-	+, dorsal	-	-	-	-		+
Joint laxity	+	-	-	+	-	-	+	-	-	-	-	+	-	-	-		+
Prominent finger tip pads	+	+	+	+	+	+	+	+	+	+	-	+	+	+	+		-
Neurologyc abnormality
Hypotonia in infancy	+	+	-	+	+	+	+	+	+	+	-	+	+	+	+	-	+
Mental retardation	mild	mild	-	severe	mild	mild	mild	mild	mild	severe	-	mild	mild	mild	mild	mild	+
Seizure	+	+	+	-	+	-	+	-	-	-	-	-	-	-	-	-	+
Visceral abnormality
Cardiovascular anomaly		VSD	-	-	-	-	ASD	-	-	PDA	-	VSD, RAA, ASA	-	VSD	-	VSD	+
Renal and urinary tract anomalies		-	-	-	-	NB	-	-	-	PD		-	-		-	PD	+
CNS malformation	BA, HCC, CV		-	-	-		-	-	-	-	-				-		+
Anogenital anomaly		APA	-	-	MG	-	-	-	NP	-	-	-	-		-	HC, APA	+
Hearing
Recurrent otitis media		+	-	+	-	-	+	-	-	-	-	+	-	-	-		+
Hearing loss	+	-	-	+		SN		+	-	-	-	-	-	-	-		+
Other											TDAH, AS, SD		AS, M	MA, HH			many
Analyzed by CGH array	-	+	-	-	-	+	+	+	+	+	-	+	-	+	+	+

APA = anteriorly place anus; AS = Astigmatism; ASA = aberrant subclavian artery; ASD = Auricular septal defect; BA = brain atrophy; BU = bifid uvula; CV = Cerebellar vermis; DR = Deformed ribs; HCC = hypoplastic corpus callosum; HC = hypertrophic clitoris; HH = hiatal hernia; M = Myopia; MA = metatarsus adductus; MG = Macrogenitalia; NB = neurogenic bladder; NP = narrow penis; PD = pelvis dilatation; PDA = Patent Ductus Arteriosus; RAA = right aortic arch; SD = School delay; SN = sensori neural; TR = thin ribs; VSD = Ventricular septal defect; RH = rib hypoplasia; * Patients previously published [13]

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ISSN: 1471-2350

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