Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. The incidence is estimated to be about 1:50,000 live-born infants. In the commonest form of the disorder, the dysmorphic syndrome is very moderate and non-specific. The main clinical features are short stature, round face with short philtrum, palpebral ptosis and large ear...

A retrospective study from November 2004 to May 2012, conducted at the Obstetric Clinic of Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (HC-FMUSP), which included 92 singleton pregnancies with prenatal diagnosis of trisomy of chromosome 21 (T21), 18, 13 (T13/18) and monosomy X (45X), with diagnosis performed until the 26th week of pregnancy. The aim of the study was t...

A sister and a brother with 46, XX (46, XY), -21, +der (15) (q22.1; q22.1) mat were reported whose mother had a karyotype of 46, XX, t(15; 21)(q22.1; 22.1) and was phenotypically normal. Both sibs were mentally retarded and dysmorphic. Moreover, the sister had a holoprosencephaly with congenital hydrocephalus, and the brother showed congenital hydrocephalus.

Background: With a high sensitivity and specificity, non-invasive prenatal testing (NIPT) is an incomparable screening test for fetal aneuploidy. However, the method rather newly introduced, experiences with false positive results are few. Even rare cases of discordant may cause psychological stress.
 Aim Study: The aim this study was to examine NIPT tests in high-risk pregnancies. literat...

A patient with acute nonlymphocytic leukemia (ANLL), M5b according to French-American-British (FAB) classification, showed monosomy 16, an extra 1p-, and a 21q+. These derivative chromosomes could not be defined by GTG-banding. For better characterization, we performed two-color fluorescence in situ hybridization (FISH) experiments applying DNA libraries from sorted human chromosomes, chromosom...

Background The presence of monosomy 3 in the primary tumor is widely accepted as the most reliable prognostic parameter, identified in approximately 50% of patients with primary uveal melanoma [1]. Long term studies have shown a 3-year survival rate of 40% if monosomy 3 is present, whereas tumors with normal chromosome 3 status rarely give rise to metastatic disease and have a 90% 3-year surviv...