Table 1.
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 3rd and 4th fingers | + | ||||||||
2nd toe crossed over 3rd toe | + | ||||||||
Open ductus botalli | + | + |