De novo reciprocal translocation t(5;11)(q22;p15) associated with hydrops fetalis (reciprocal translocation and hydrops fetalis).

OBJECTIVE: This is a case of a prenatally diagnosed non-immune hydrops fetalis (NIHF) associated with translocation t(5;11)(q22;p15). An association between NIHF and this translocation has not been reported previously. CASE REPORT: The patient was referred to the perinatology clinic with hydrops fetalis diagnosis at 23 weeks' gestation. We noted that the fetus had bilateral pleural effusion, ascites, widespread subcutaneous edema, membranous ventricular septal defect, hypoplastic fifth finger middle phalanx, clinodactyly, single umbilical artery. We performed cordocentesis. Chromosomal analysis on blood showed a balanced translocation between the long arm of chromosome 5 and the short arm of chromosome 11 with karyotype of 46,XX,t(5;11)(q22;p15). CONCLUSION: We present prenatal diagnosis of a de novo translocation (5;11) in a hydropic fetus with ultrason abnormalities. In our case, karyotype analysis of the fetus, mother and father provided evidence of a de novo translocation, that might explain the NIHF.

Prenatal diagnosis of a 22q11 deletion in a second-trimester fetus with conotruncal anomaly, absent thymus and meningomyelocele: Kousseff syndrome.

A 30-year-old nulliparous woman was seen for a detailed ultrasound scan at 20 weeks of gestation. The scan revealed a male fetus with truncus arteriosus, membranous ventricular septal defect, absent thymus and sacral meningomyelocele. A 46,XY karyotype with a 22q11 deletion was detected. The parents chose to terminate the pregnancy. The pathological autopsy showed normal facial structures, minimal ventricular dilatation in the brain and a sacral meningomyelocele. Overlapping toes and a left claw-hand were also noted. An aplastic thymus with absent parathyroid glands was detected. The cardiac examination was consistent with the ultrasound diagnosis. The parental karyotypes were both normal. Kousseff syndrome is caused by a chromosome 22q11 deletion. It includes sacral meningomyelocele and conotruncal heart defects, unlike DiGeorge syndrome. Obstetricians should consider this a not so rare entity when they detect conotruncal abnormalities and a meningomyelocele as part of a 22q11.2 deletion syndrome.

Severely calcified valvular aortic stenosis firstly diagnosed in monozygotic male twins with suspected Williams-Beuren syndrome.

Williams-Beuren syndrome is a rare and usually sporadic genetic anomaly with an estimated frequency of 1:25,000, that also has cardiac defects due to the effect on the elastin locus of a deletion on the 7th chromosome. Identical twin boys presented with exercise-induced syncope. Echocardiographic examination revealed severe calcification at the aortic valves, mitral anterior leaflets, and mitral annuli in both cases. A basal interventricular septum was also involved in one case. Doppler evaluation demonstrated severe aortic stenosis with a peak gradient of 112 and 118 mmHg in both cases. Moderate mitral stenosis was also detected in one twin. We performed aortic mechanical valve replacement and dilated the aortic annulus with Nick's procedure and evaluated the diagnosis and therapy methods in light of the literature. As a result, we determined that these boys are the first monozygotic twins who were diagnosed during childhood.