Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature

Table 1

Karyotype and the clinical features of the present case and previously reported cases with ring chromosome 4.

	Present case	1 [10]	2 [13]	3 [14]	4 [3]	5 [15]	6 [16]	7 [17]	8 [18]
Karyotype	46,XX,r(4)	46,XY,r(4)	46,XY,r(4)	46,XY,r(4)	46,XY,r(4),(p16q35)	46,XY,r(4),(p15q35)	46,XX,r(4),(p16q35)	46,XY,r(4),(p16q35)	46,XY,r(4),(p16q35)
Preterm delivery	+								+
Low birth weight	+	+	+	+	+	+	+	+	+
Growth retardation	+	+	+	+	+	+	+	+	+
Developmental delay	NA			+	+			+	+
Mental retardation	NA	NA	+	+	+	NA	NA		+
Microcephaly	+	+	+	+	+		+	+	+
Hypertelorism	−		+			+	+
Epicanthal folds	−		+			+
Coloboma	−	+				+
Ptosis	+			+
Malformed ears	Low set	Large	Low set			Low set	+	+
Abnormal nose	−	Flat, broad					Flat	Broad
Cleft lip	+ (U/L)	+ (U/L)				+ (B/L)
Cleft palate	+	+				+		+
Micrognathia	−		+					+	+
Abnormal spine	−								Mild kyphosis
Transverse palmar crease	−	+	+					+
Clinodactyly	−		+	+	+	+
Abnormal thumb	−	B/L hypoplasia		Hypoplasia	Long slender				Adducted
Feet deformity	+ B/L TEV	Overriding toes			Valgus deformity	Rocker-bottom, overriding toes	Valgus deformity	Overlapping toes	Syndactyly, hypoplastic toes
Sacral dimple	−		+		+
Cardiac abnormalities	PDA	PFO					VSD
Intestinal anomalies	−	Incomplete rotation
Renal and urinary tract anomalies	Unilateral; agenesis	Renal hypoplasia
Hypospadias	NA	+	Epispadias	+			NA	+
Cryptorchidism	NA		+	+			NA		+
Neurological abnormalities	−	Generalized hypoplasia of brain	Seizures			Hypotonia	Hypotonia abductors
Early death	10 weeks	4 weeks				2nd week	3 days
	9 [12]	10 [19]	11 [4]	12 [20]	13 [21]	14 [22]	15 [23]	16 [11]	17 [24]
Karyotype	46,XX,r(4),(p16q35)	46,XX,r(4),(p16q35)	46,XY,r(4)	46,XY,r(4)(p16q35)/46,XY	46,XY,r(4),(p16q35)	46,XX,r(4),(p16.3q35.2)	45,XX,-4/46,XX,r(4)	46,XY,r(4),(p16.3q35)	46,XX,r(4)
Preterm delivery		+					Elective termination	+
Low birth weight	+	+	+	+	+		NA	+	+
Growth retardation	+	+	+	+	+	+	NA	+	+
Developmental delay	+	+		+	+		NA	+
Mental retardation	+	+		+			NA	+
Microcephaly	+	+	+	+	+	+		+	+
Hypertelorism					+		+	+
Epicanthal folds		+		+	+	+
Coloboma								+
Ptosis								+
Malformed ears	Large	+		+				Large, flat	Posteriorly rotated
Abnormal nose		Depressed bridge		Beaked nose	Short, bulbous tip		High bridge
Cleft lip							+(B/L)	+
Cleft palate							+	+
Micrognathia		+		+	+				+
Abnormal spine				Mild kyphoscoliosis
Transverse palmar crease						+
Clinodactyly			+	+	+
Abnormal thumb					Proximally placed			B/L hypoplasia
Feet deformity
Sacral dimple		+
Cardiac abnormalities	ASD	VSD					Dextrocardia/; TGA	IVS aneurysmal dilation
Intestinal anomalies		Duodenal atresia					Gallbladder hypoplasia	Midgut malrotation
Renal and urinary tract anomalies		VUR		Oligomeganephronia	Hypoplastic ectopic kidney			Hypoplasia	Unilateral agenesis
Hypospadias	NA	NA				NA	NA	+	NA
Cryptorchidism	NA	NA		+		NA	NA	+	NA
Neurological abnormalities								Seizures; Cerebral atrophy
Early death							NA

NA: not applicable, U/L: unilateral, B/L: bilateral, PDA: patent ductus arteriosus, ASD: atrial septal defect, VSD: ventricular septal defect, TGA: transposition of great arteries, and IVS: interventricular septum.