Partial trisomy 9q represents a rare and heterogeneous group of chromosomal aberrations characterised by various clinical features including pyloric stenosis. Here, we describe the case of a 1 year old female patient with different dysmorphic features including pyloric stenosis and prenatally detected partial trisomy 9q. This partial trisomy 9q has been analysed in detail to determine the size ...

A girl with a new de novo translocation of 4q onto the short arm of acrocentric 22 is reported as a case of "pure" partial trisomy 4q. Her karyotype was 46, XX,-22, +mar, t(4;22)(q25-->qter;p11) identified by Giemsa staining and FISH. Comparison of the proband with previously reported cases of "pure" partial trisomy 4q showed the main clinical features to be growth retardation, psychomotor reta...

Carriers of balanced reciprocal translocations may have a (high) risk for producing liveborn children with an unbalanced karyotype. We report a large family in which a translocation between the long arm of chromosome 11 and the short arm of chromosome 13 is segregating in at least five generations. During the course of our study 15 carriers of the balanced translocation were identified and nine...

The prognostic significance of the additional abnormalities to the t(15; 17) remains controversial. We report a case of promyelocytic leukemia (APL) in a ten-year-old boy. Classical and molecular cytogenetic (FISH) studies of a bone marrow sample obtained at diagnosis revealed the presence of trisomy of chromosome 11 as an additional chromosomal abnormality to the t(15; 17). The presence of the...

Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred t...

We report on two mentally retarded adults with an unbalanced karyotype resulting from a familial balanced translocation between chromosomes 8 and 21, t(8;21)(p21.1;q22.3). This translocation has not been reported before. Both patients had partial trisomy 8p and partial monosomy 21q. Fluorescence in situ hybridisation (FISH) was used to determine the chromosomal breakpoints more precisely. The f...

Measurement of alpha-fetoprotein concentration and acetylcholinesterase activity in amniotic fluid can be used to identify chromosomal defects as well as neural tube defects. In seven cases of trisomy 21 and one case of partial trisomy 3, alpha-fetoprotein concentrations were below the reference range but values for acetylcholinesterase activity were normal for the appropriate gestational age. ...

Partial trisomy of the long arm of chromosome 4, usually resulting from a familial segregation of a balanced translocation, has been described in a number of patients. This report describes the genetic and endocrine findings in a 16 year old 46,XY,12q+ mentally retarded male. The banding pattern of the extra chromatin material from this de novo unbalanced translocation shows that the distal seg...

We report on two cases of distal monosomy 11q and partial trisomy 16q due to a familial subtle translocation detected by FISH subtelomere screening. Exact breakpoint analyses by FISH with panels of BAC probes demonstrated a 9.3-9.5 megabase partial monosomy of 11q24.2-qter and a 4.9-5.4 megabase partial trisomy of 16q24.1-qter. The index patient displayed craniofacial dysmorphisms, mild mental ...