Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies

Table 1 Clinical characterstics of the patient compared with other cases with supernumerary ring chromosomes 18 and other abnormal chromosomes 18

	Our case	[7] mother	[6] case 9	[5]	[28]	[29] case 18-2	[30]	[31] child 3	[32]
	patients with supernumerary ring chromosomes 18				patients with abnormal chromosomes 18
Described karyotype	47,XY,+r(18)(q10q11.2)	47,XX,+r(18)(p1?1q2?3)[2]/46,XX[98]	47,XX,+r(18)[85%]/46,XX[15%]	mos 47,XY,+r(18)[13]/46,XY[42]	46,XX,dic(18;18)(q11.2;q21.3)	47,XX,min(18)(:p11.1q11.2)	mos +der(18)(p11.21q11.2)[68%]	ins(18)(p13.2;q12.2q11.2)	47,+min(18)(:p11.21q11.2:)[68%]/46[32%]
Birth weight	2670 g		2500 g	2948 g	TOP 22wks 520 g
Developmental delay/mental retardation	-	-	-	+			possibly	-	possibly
Dysmophic features	+	-	-	+		-	possibly	-	possibly
Hearth disease		-				+
Atrial septal defect						+
Single umbilical artery	+
Anal artresia	+
Dysplastic lumbar and sacral vertebrae	+
Penoscrotal hypospadia	+
Cryptorchism	+
Bifid scrotum	+
Vesico ureteral reflux	+
Trabeculated bladder	+
Radial dysplasia	+
Thumb hypoplasia	+
Preaxial polydactyly	+
VACTERL association	+
Pancreas fissum	+
Hypertrophy of the lower limb				+
Long tapering fingers				+
Elongated, thin feet				+
Vascular malformations				+
Splenomegaly				+
Size discrepancy kidneys				+
Renal arteriovenous malformations				+
Hydronephrosis				+
Esophageal varices				+
Short stature			+
Unilateral cleft lip and palate					+
Anotia with atresia					+
Low set ear					+
Micorgnathia					+
Rocker-bottom feet					+
Left index finger crossed over 3^rd and 4^th fingers					+
2^nd toe crossed over 3^rd toe					+
Open ductus botalli					+	+

ISSN: 1755-8166