| 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 | Â | 2500 g | 2948 g | TOP 22wks 520 g | Â | Â | Â | Â |
Developmental delay/mental retardation | - | - | - | + | Â | Â | possibly | - | possibly |
Dysmophic features | + | - | - | + | Â | - | possibly | - | possibly |
Hearth disease | Â | - | Â | Â | Â | + | Â | Â | Â |
Atrial septal defect | Â | Â | Â | Â | Â | + | Â | Â | Â |
Single umbilical artery | + | Â | Â | Â | Â | Â | Â | Â | Â |
Anal artresia | + | Â | Â | Â | Â | Â | Â | Â | Â |
Dysplastic lumbar and sacral vertebrae | + | Â | Â | Â | Â | Â | Â | Â | Â |
Penoscrotal hypospadia | + | Â | Â | Â | Â | Â | Â | Â | Â |
Cryptorchism | + | Â | Â | Â | Â | Â | Â | Â | Â |
Bifid scrotum | + | Â | Â | Â | Â | Â | Â | Â | Â |
Vesico ureteral reflux | + | Â | Â | Â | Â | Â | Â | Â | Â |
Trabeculated bladder | + | Â | Â | Â | Â | Â | Â | Â | Â |
Radial dysplasia | + | Â | Â | Â | Â | Â | Â | Â | Â |
Thumb hypoplasia | + | Â | Â | Â | Â | Â | Â | Â | Â |
Preaxial polydactyly | + | Â | Â | Â | Â | Â | Â | Â | Â |
VACTERL association | + | Â | Â | Â | Â | Â | Â | Â | Â |
Pancreas fissum | + | Â | Â | Â | Â | Â | Â | Â | Â |
Hypertrophy of the lower limb | Â | Â | Â | + | Â | Â | Â | Â | Â |
Long tapering fingers | Â | Â | Â | + | Â | Â | Â | Â | Â |
Elongated, thin feet | Â | Â | Â | + | Â | Â | Â | Â | Â |
Vascular malformations | Â | Â | Â | + | Â | Â | Â | Â | Â |
Splenomegaly | Â | Â | Â | + | Â | Â | Â | Â | Â |
Size discrepancy kidneys | Â | Â | Â | + | Â | Â | Â | Â | Â |
Renal arteriovenous malformations | Â | Â | Â | + | Â | Â | Â | Â | Â |
Hydronephrosis | Â | Â | Â | + | Â | Â | Â | Â | Â |
Esophageal varices | Â | Â | Â | + | Â | Â | Â | Â | Â |
Short stature | Â | Â | + | Â | Â | Â | Â | Â | Â |
Unilateral cleft lip and palate | Â | Â | Â | Â | + | Â | Â | Â | Â |
Anotia with atresia | Â | Â | Â | Â | + | Â | Â | Â | Â |
Low set ear | Â | Â | Â | Â | + | Â | Â | Â | Â |
Micorgnathia | Â | Â | Â | Â | + | Â | Â | Â | Â |
Rocker-bottom feet | Â | Â | Â | Â | + | Â | Â | Â | Â |
Left index finger crossed over 3rd and 4th fingers | Â | Â | Â | Â | + | Â | Â | Â | Â |
2nd toe crossed over 3rd toe | Â | Â | Â | Â | + | Â | Â | Â | Â |
Open ductus botalli | Â | Â | Â | Â | + | + | Â | Â | Â |