Further studies on the genetic heterogeneity of cebocephaly.

Genetic heterogeneity of cebocephaly.

Prenatal diagnosis of de novo isochromosome 13q associated with microcephaly, alobar holoprosencephaly and cebocephaly in a fetus.

We report on the prenatal diagnosis, genetic studies, and pathology of a case with de novo isochromosome 13q. A 31-year-old primigravida was referred for genetic counselling at 26 weeks' gestation due to the sonographic findings of intrauterine growth retardation and microcephaly. Level II ultrasonograms further demonstrated alobar holoprosencephaly, hypotelorism, polydactyly, a ventricular sep...

Genetic Heterogeneity among Leishmania major Isolates in Iran Determined by Restriction Fragment Length Polymorphism (RFLP) and Multilocus Microsatellite Typing (MLMT)

Background & Aims: In recent years, molecular methods for characterizing genetic heterogeneity have found a major place in modern approaches. In this study, two different molecular techniques including Restriction Fragment Length Polymorphism (RFLP) and Multi Locus microsatellite typing (MLMT) were carried out in order to evaluate genetic heterogeneity among isolates of Leishmania major in Iran...

Unusual occurrence of cystic fibrosis and alobar holoprosencephaly.

Holoprosencephaly (HPE) is a defect of embryonic forebrain resulting from failure of growth and segmentation of the anterior end of the neural tube. It has been classified into 4 types based on the severity of associated brain and facial malformations. The most severe variety called alobar HPE is generally associated with major cranio-facial anomalies such as cyclopia, ethmocephaly, cebocephaly...

Cebocephaly in an infant with trisomy 18.

An infant who died in the perinatal period with the unusual association of trisomy 18 and cebocephaly is described. It is suggested that this association may be more common than is generally recognised because the majority of such infants are stillborn or live only briefly and often do not have chromosome studies performed.