Parental Decisions of Prenatally Detected Sex Chromosome Abnormality

Parental decisions of prenatally detected sex chromosome abnormality.

Because of the widespread use of amniocentesis, the prenatal recognition of sex chromosome abnormality (SCA) has become increasingly common. Recent literature provided an insight into the understanding of the natural history and prognosis for individuals with SCA. Our study was designed to review the parental decision on pregnancy with SCA. Over the last 10 yr, we diagnosed 38 cases (0.50%) wit...

The XXXXY sex chromosome abnormality.

The most common sex chromosome complex in sex chromatin-positive males with Klinefelter's syndrome is XXY. When the complex is XXYY or XXXY, the clinical findings do not seem to differ materially from those seen in XXY subjects, although more patients with these intersexual chromosome complements need to be studied to establish possible phenotypical expressions of the chromosomal variants.Two m...

Familial pericentric inversion of chromosome 11 detected prenatally.

Prenatally detected thoracic neuroblastoma

Neuroblastoma is the most common pediatric extracranial solid tumor derived from primitive neural crest cells of the sympathetic nervous system. Although one-fifths of all neuroblastomas occurs within the thorax, thoracic neuroblastomas detected in fetus have been rarely reported. We report a case of fetal thoracic neuroblastoma with massive pleural effusion detected with prenatal ultrasonograp...

Sex chromosome abnormality in a patient with transsexualism.

Transsexualism, defined as the wish to change anatomical sex (Benjamin, 1954), is a psychosexual disorder usually not associated with physical abnormalities (Randell, 1970) or abnormality of the sex chromosomes (Money, 1963). In males with Klinefelter's syndrome, where there is an additional X chromosome, cases have been described with coincidental transsexualism (Money, 1963) and transvestism ...