Prenatal diagnoses of sex chromosome conditions

Reviewing earlier diagnoses of chromosome.

How many inpatient paediatric units do we need? EDITOR,-In his article on paediatric inpa-tient units, Professor Taylor claims that many present paediatric units are too small to provide safe and cost effective care, do not meet required standards, and should combine into larger units providing specialist children's services.' We would disagree with him, at least with regard to rural communitie...

X chromosome dosage by quantitative fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies.

During the past few years, rapid prenatal diagnosis of chromosome aneuploidies has been successfully achieved by quantitative fluorescent PCR (QF-PCR) amplification of chromosome-specific small tandem repeats (STR). This approach has proven to be very useful in clinical settings, since it allows the detection of major numerical disorders in a few hours after sampling. For the detection of Turne...

Skin Diseases: DNA-Based Diagnoses and Prenatal Diagnoses

Among a range of inherited skin disorders, some of markedly severe phenotypes have been widely considered as indications for prenatal diagnoses. Recent studies have achieved significant progress in understanding the molecular basis of these heritable skin discases. These include epidermolysis bullosa (EB). a group ef mechanobullous genodermatoses, ichthyosis, a heterogeneous condition of gcnera...

Karyotype and Sex-Chromosome Polymorphism in Nesokia indica, from Iran

Incidental Prenatal Diagnosis of Sex Chromosome Aneuploidies: Health, Behavior, and Fertility

Objective. To assess the diagnostic relevance of incidental prenatal findings of sex chromosome aneuploidies. Methods. We searched with medical subject headings (MeSHs) and keywords in Medline and the Cochrane Library and systematically screened publications on postnatally diagnosed sex chromosomal aneuploidies from 2006 to 2011 as well as publications on incidentally prenatally diagnosed sex c...