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 [molecularcytogenetics.biomedcentral.com]

Echocardiography identified an atrial septal defect and a hypoplastic right pulmonary artery. Ultrasound examination of the brain showed enlarged lateral ventricles and gyral flattening. [jmg.bmj.com]

Some affected infants may also have structural heart (cardiac) malformations that are present at birth (congenital heart defects), such as an abnormal opening in the fibrous partition (septum) that separates the upper chambers of the heart (atrial septal [rarediseases.org]

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 [molecularcytogenetics.biomedcentral.com]

The mother was phenotypically and mentally normal and there was no heart disease in the family. The relatively mild phenotypic characteristics of the mother may be due to the low percentage of mosaicism (2%). [molecularcytogenetics.biomedcentral.com]

Congenital heart disease, deafness and duplications of 3q; refining a new syndrome. J Med Genet 2003; 40 :Suppl1 S60 Wilson DI, Cross IE, Goodship JA, Coulthard S, Carey AH, Scambler PJ, Bain HH, Hunter AS, Carter PE, Burn J. [ngrl.org.uk]

Our r(18) patient had anal atresia, abnormal lumbar and sacral vertebrae, hypospadia, cryptorchism, bifid scrotum, ureteral flow abnormality, radial dysplasia and thumb hypoplasia on the right upper extremity and preaxial polydactyly of the left hand. [molecularcytogenetics.biomedcentral.com]

Click Here to Zoom Figure 1: Fetus with cleft lip and palate, low-set ears, depressed nasal bridge, radial club hand, radius aplasia, ulnar hypoplasia, thumb hypoplasia (Case 2). [turkjpath.org]

Cryptorchidism and marker chromosomes:identification of marker chromosomes by fluorescence in situhybridization. Urol Int 55: 2528.Schrock E, Veldman T, Padilla-Nash H, et al. 1997. [docslide.fr]

Urogenital anomalies, including horseshoe kidneys, double ureter, and cryptorchidism have occasionally been seen. It is not clear whether patients with tetrasomy 18p are born to mothers of increased age. Most of the reported cases are sporadic. [flandershealth.us]

Chromosomal anomalies in cryptorchidism. Int Urol Nephrol. 1996;28(1):99-102. Amor DJ, Choo KH. Neocentromeres: role in human disease, evolution, and centromere study. Am J Hum Genet. 2002 Oct;71(4):695-714. [ssmc-tl.com]

The urinary flow problems resulted in frequent infections and some episodes of urosepsis, finally causing chronic renal insufficiency. In his teens he underwent cholecystectomy because of an abnormal gallbladder full of stones. [molecularcytogenetics.biomedcentral.com]