19q13.11 microdeletion concomitant with ins(2;19)(p25.3;q13.1q13.4)dn in a boy: potential role of UBA2 in the associated phenotype

Venegas-Vega, Carlos; Nieto-Martínez, Karem; Martínez-Herrera, Alejandro; Gómez-Laguna, Laura; Berumen, Jaime; Cervantes, Alicia; Kofman, Susana; Fernández-Ramírez, Fernando

doi:10.1186/s13039-014-0061-z

Molecular Cytogenetics

Table 1 Clinical features of patients with 19q13.11 deletion syndrome (MIM613026)

From: 19q13.11 microdeletion concomitant with ins(2;19)(p25.3;q13.1q13.4)dn in a boy: potential role of UBA2 in the associated phenotype

Patient	1	2	3	4	5	6	7	8	9	10	11	Proband	Total
Size of the deletion (Mb)	11	6.16	4.27	3.19	2.4	1.74	2.63	7.87	1.37	8.16	2.30	2.49
Gender	F	M	M	M	M	M	F	M	F	F	M	M	4 F/8 M
Age [years. months]	3.0	6.0	9.2	5.0	4.10	14	8.0	ϕ	6.5	5.6	1.6	6.7
Preterm delivery [≤38 weeks]	+	+	+	+	+	+	+	+	+			+	10/10
*Development characteristics*
Prenatal growth retardation	+	+	+	+	+	+	+	+	+	-	+	+	11/12
Feeding problems	+	+	+	+	+	+	-		+	+	+	+	10/11
Postnatal growth retardation	+	+	+	+	+	+	+		+	+	+	+	11/11
Slender habitus	+	+	+	+	-	+	-		+			+	7/9
Little subcutaneous fat	+	+	+	+			-		+			+	6/7
DD/ID	+	+	+	+	+	+	+		+	+	+	+	11/11
Speech disturbance	+	+	+	+	+	+	+		+	+	+	+	11/11
Microcephaly	+	+	+	+	+	+	+		+	+	+	+	11/11
Minor Facial dysmorphic features*	+	+	+	+	+	+	+	+	+	+	+	+	12/12
Long face	+	+	+	+	+	+	- ^a	+	+	+		+	10/11
High frontal hairline	+	+	+	+^b	+	+		+	+	+		+	10/10
High forehead	+	+	+	+	+	+			+	+		+	9/9
Eye abnormalities	+^c	-	+^d	+^e	-		+^f					+^c	5/7
V-shaped nasal tip	+	+	+	+	+	+				+		+	8/8
Hypoplastic nasal alae	+	+	+	+	+	+				+		+	8/8
Low-set columella		+	+			+	+					+	5/5
Thin lips	+	+	+	+	+	+	+	+		+		+	10/10
Retro-micrognathia	+	+	+	+	+	+	+	+	+	-	+	+	11/12
Large ears or low-set ears	+	+	+	+	+	+	+	+	+	+		+	11/11
*Signs of ectodermal dysplasia*
Aplasia cutis in midline of scalp	+	+	+	+	+	+	-		+	-	+	+	9/11
Thin/dry skin		+	+	+	+				+	-	-	+	6/8
Thin-sparse hair		+	+	+	+	+	-		+	-	-	+	7/10
Thin-sparse eyebrows/eyelashes	+	+	+	+	+	+	+		+	-	-	+	9/11
Teeth abnormalities		+^g			+^h	-	+ⁱ			+^j	-	+^j	5/7
Dysplasic nails		+	+	-	+	-	-		+	-	-	+	5/10
*Genital abnormalities*
Hypospadias	NA	+	+	+	+	+	NA	+	NA	NA	+	+	8/8
Testicular ectopia	NA	-	+	+	+	-	NA		NA	NA	+	+	5/7
Bifid scrotum	NA	+	-	-	+	-	NA		NA	NA	-	+	3/7
*Extremity abnormalities*
Long/tapering fingers	+	+	+		+	+	+			+		+	8/8
Clinodactyly of the 5th finger	+	+	+	+	+	+	-					+	7/9
Abnormal positioning of the feet	+				+	+			-			+	4/5
Overlapping of the toes	+	+	-	-	-	-	-		+			+	4/9
Cutaneous syndactyly F/T		-	+	+	+	+	-		-	+	+	+	7/10
*Others*
Recurrent airways infections	+			+	+	+	-		+			+	6/7
Heart disease	+		+		-	+	-		+	-	+	-	5/9
Inguinal hernia				+							+	+	3/3
Febrile seizure									+		+	+	3/3
Endocrine abnormalities		+				+			+			-	3/4

Patients: (1) Kulhayra et al, [1](2–4) Malan et al, [2](5) Schuurs-Hoeijmakers et al, [3](6–7) Gana et al, [4](8) Lin et al, [5](9) Forzano et al, [6] and (10–11) Chowdhury et al. [7] The total number of patients with a specific phenotype differs depending on whether the phenotype was specifically mentioned in the reports; only those reported are counted, and blank spaces correspond to data not documented. *We included the reported facial features and also features that were not reported in cases where evaluation of the published photographs was possible. Abbreviations: F, female; M, male; ϕ, foetus aborted at the 28th week of gestation; DD/ID, developmental delay/intellectual disability; F/T, fingers or toes; +, present; -, absent; NA, not applicable. Clinical findings: ^(a)round face, ^(b)frontal upsweep of hair, ^(c)strabismus, ^(d)microcornea-cataract, ^(e)epiblepharon, ^(f)astigmatism, ^(g)single median incisor, ^(h)teeth irregularly placed, ⁽ⁱ⁾hypodontia and ^(j)multiple caries.

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ISSN: 1755-8166

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