ABSTRACT
The 6p24 deletion syndrome, a contiguous gene deletion syndrome is characterized by a wide spectrum of clinical presentations. In this case report we present an antenatal case of 6p 24 deletion syndrome variant involving FOXC1 gene. First trimester fetal screening of a 34 year old pregnant female revealed ultrasonographic anomalies and chorionic villus sampling was performed to rule out any chromosomal anomaly. Cytogenetic examination resulted in normal 46,XY karyotype. In the following weeks further anomalies like cleft palate/lip, thick nuchal fold, ventral septal defect and low set ear were detected with ultrasonography. At 20 weeks of gestation, amniocentesis and whole genome array-CGH analysis revealed a 9.6 Mb interstitial deletion in the 6p25.2p24.1 region which has many genes including an important gene, FOXC1 and 119 Kb interstitial deletion at 9q22.31. The pregnancy was terminated. Postmortem morphological examination revealed turricephaly, hypertelorism, depressed nasal bridge, broad nasal tip, left sided cleft lip, low-set small ears, micrognathia, short neck, increased nuchal fold, short broad distal phalanges, broad thumbs, broad halluces and broad toes.
Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 6/genetics , Fetal Diseases/diagnostic imaging , Prenatal Diagnosis , Abnormalities, Multiple/diagnostic imaging , Abortion, Induced , Adult , Chromosome Deletion , Female , Genetic Testing , Humans , Pregnancy , Ultrasonography, PrenatalABSTRACT
INTRODUCTION: Sacral parasitic twins originate from one fertilized ovum and they have one placenta and the same sex. CASE REPORT: A 23-year-old woman was referred to our clinic. Examination by touch revealed a mass that was in the sacral region but the borders could not be fully examined. The solid mass, which was conjoined to the sacrum, had a soft texture. The infant's appearance was macroscopically normal. When the mass was examined by palpation, there were structures which felt like extremities. The mass was 20 x 11 x 9 cm in size. CONCLUSION: The differential diagnosis should include sacrococcygeal teratoma. In our case the differential diagnosis was done by histopathologic findings. This case, which involved a tumoral formation at the sacral region in the antenatal period, was detected during delivery. A sacral parasite is a rarely seen phenomenon and as such the diagnostic information of this case could be useful.
