A review is given of the incidence, cytogenetics, and biologic relevance of pericentric
inversions (pii). In 251 cases in the literature and our patients, 96 different inversion forms …

In a clinical and cytogenetic survey of 39 individuals with Prader‐Labhart‐Willi syndrome
(PLWS)(23 males and 16 females ranging in age from 2 weeks to 39 years), an interstitial …

Over the past few decades, the knowledge on genetic defects causing mental retardation
has dramatically increased. In this review, we discuss the importance of balanced …

Baraitser-Winter syndrome is a rare autosomal recessive disorder characterized by
developmental delay, dysmorphic features, and multiple malformations also involving the …

A chromosome 15 anomaly was observed in 12 of 20 patients, 17 of whom were clinically
suspected of having Prader-Willi syndrome (PWS). The clinical features of eight cases with …

We describe 2 children with severe ptosis, trigonocephaly, broad nasal bridge, and major
brain malformation. A total of 8 children have been reported who share most of these …

Thirteen new cases of a pericentric inversion 2 collected from different laboratories are
reported. In addition 41 cases of a pericentric inversion 2 were reviewed from the literature …

Among 6800 consecutive blood samples studied for clinical cytogenetic diagnosis, we
identified 30 families in which one parent of the proband had a balanced reciprocal …

We report a previously undescribed case of a de novo balanced translocation t (5; 13)(q11;
p11) and Franceschetti syndrome in a 3-year-old girl. The hypothesis that this unusual …

A woman presented a complex chromosome rearrangement with translocation between
chromosome 2 and 4 in addition to an insertion of the band 4q12→ q13 in the long arm of …