Complex sSMC Involving X and Y Chromosomes in two Patients with 45,X/46,X,+mar Karyotype

Complex small supernumerary marker chromosomes (sSMCs) consist of chromosomal material derived from two or more different chromosomal regions and constitute one of the smallest subsets of sSMC. Most of complex sSMCs are represented by a der(22)t(11;22) in Emanuel syndrome. As far as we know, only one recent report has described sSMCs involving simultaneously X and Y chromosomes in Turner Syndrome. We report two patients, a female and a male, both with a complex sSMC derived from X and Y chromosomes in mosaic with a 45,X cell line. In both patients, the marker chromosomes were early replicating and the XIST gene was absent. FISH and PCR confirmed the presence of Yp loci (TSPY, AMGY, SRY, DYZ3), and negative for DYZ1. The DAZ4 sequence was present only in patient 1.Our findings suggested that complex sSMC involving X and Y chromosome could be a kind of sSMC of the gonosomes.

Anesthetic Management of a Pediatric Patient with Emanuel Syndrome

Emanuel syndrome is a very rare recessive hereditary disorder characterized by multiple congenital anomalies, craniofacial dysmorphism, significant developmental delay and mental retardation. In this case report, we discussed our anesthetic management of a pediatric patient with Emanuel Syndrome undergoing isolated cleft palate repair operation. General anesthesia was maintained with total intravenous anesthetic techniques. Videolaryngoscopy was used for endotracheal intubation. The patient was extubated at the operating room following an uneventful intraoperative period, however she developed respiratory distress and was reintubated and transferred to pediatric intensive care unit. Anesthesiologists should be prepared for difficult airway management because of concomitant micro-retrognathia, as in our patient. Most of the problems regarding anesthetic management of this extremely rare syndrome can be reduced by a detailed preoperative assesment, preparation for diffucult airway and a careful hemodynamic monitoring.

Early detection of Emanuel syndrome: a case report

ObjectivesEmanuel syndrome is a rare inherited syndrome, a correct in utero diagnosis allows effective management for ongoing and future pregnancies.Case presentationHere, we report a case of a complete non-mosaic trisomy 22, with several prenatal sonographic findings, that was diagnosed in utero at 15 weeks’ gestation and then it was confirmed with chromosomal analysis and postmortem examination.ConclusionsEvery anatomical difference should always be further investigated in order to achieve the correct diagnosis.