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. 2010 Jul 9;3:13. doi: 10.1186/1755-8166-3-13

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 3rd and 4th fingers +
2nd toe crossed over 3rd toe +
Open ductus botalli + +