A patient with Edwards syndrome caused by a rare pseudodicentric chromosome 18 of paternal origin

  title={A patient with Edwards syndrome caused by a rare pseudodicentric chromosome 18 of paternal origin},
  author={Claus H{\o}jbjerg Gravholt and Merete Bugge and Helle Str{\o}mkj{\ae}r and M. Caprani and Ulrik Henriques and Michael Bj{\o}rn Petersen and Carsten A. Brandt},
  journal={Clinical Genetics},
We present an unusual case of trisomy 18 due to a pseudodicentric chromosome 18 of paternal origin. The karyotype was: 46,XY,—18, + psu dic(18)(qter→cen→p11.31::p11.31→psucen→qter). The origin of the abnormal chromosome was verified by FISH with a painting probe from chromosome 18. Absence of short‐arm telomeres was shown by multicolor FISH, and the results of DNA analysis showed monosomy for loci D18S59 and D18S170 as well as paternal inheritance of the aberrant chromosome. The child's… 
First non‐mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter → q22.1::q22.1 → pter) Is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q− syndrome
To the authors' knowledge this is the first report that a fetus carrying an isopseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter → q22.1  → pter)) in non‐mosaic form can be viable, but is associated with severe congenital malformations of the child.
Identification and characterization of a new type of asymmetrical dicentric chromosome derived from a single maternal chromosome 18
It is proposed that a loop-type configuration of sister chromatids took place and that the break-reunion occurred at cross sites of the loop to form an asymmetrical isodicentric chromosome during either mitosis or meiosis.
Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin.
A 12-year-old girl with minor facial anomalies, delayed development, abnormal hands, atopic dermatitis, and hearing loss is reported on, and DNA polymorphisms for chromosome 18 showed that the abnormalities of chromosome 18 were paternal in origin.
Abnormal Phenotypes Due to Autosomal Aneuploidy or Polyploidy
Only three autosomal trisomies, those for chromosomes 13, 18, and 21, occur with an appreciable frequency in liveborn infants, and only one, trisomy 21, is compatible with long-term survival in a
Isochromosome 18q in a fetus with congenital megacystis, intra‐uterine growth retardation and cloacal dysgenesis sequence
The first report of a female fetus with concomitant isochromosome 18q [i(18q)] and cloacal dysgenesis sequence is presented, showing a correlation between the disturbance of the caudal developmental field and the chromosomal abnormality with monosomy 18p and trisomy 18q.
DNA studies of mono‐ and pseudodicentric isochromosomes 18q
This work has used 23 PCR‐based DNA polymorphisms to determine the parental origin and mechanisms of formation in four patients with isochromosomes 18q and to demonstrate that they were consistent with true isochROMosomes.
False‐positive prenatal diagnosis of trisomy 18 by interphase FISH: hybridization of chromosome 18 alpha‐satellite probe (D18Z1) to chromosome 2
Amniocentesis was done on a 39-year-old woman at 16 weeks of gestation for rapid prenatal screen (chromosomes 13, 18, 21) and chromosome analysis and a diagnosis of trisomy 18 was reported.
The dark side of centromeres: types, causes and consequences of structural abnormalities implicating centromeric DNA
How centromeres could potentially be a source of genome instability and how centromere aberrations and rearrangements are linked with human diseases such as cancer are reviewed.
The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18
An important conclusion of this study is that it is the brain that predicts the overall configuration of the face, due to its influence on the development of surrounding skeletal structures.


Trisomy 18 phenotype in a patient with an isopseudodicentric 18 chromosome.
A female patient with a typical trisomy 18 phenotype who has a 46,XX, -18, +isopseudodic(18)(p11) karotype suggests that a significant amount of short arm material is present and that the Turner-like features associated with 18p- may be determined by monosomy for 18p11.
Isodicentric chromosome 18 in an abnormal infant using chromosome specific DNA probe
A report is made on a rare isodicentric chromosome 18 in an abnormal male infant whose karyotype was 46,XY,idic(18)(pll.31→qter), confirmed by in situ hybridization using non‐radioactive
Isodicentric chromosome 18 in an abnormal infant using chromosome specific DNA probe.
A report is made on a rare isodicentric chromosome 18 in an abnormal male infant whose karyotype was 46,XY,idic(18)(p11.31----qter), confirmed by in situ hybridization using non-radioactive
Pseudodicentric chromosome 18 diagnosed by chromosome painting and primed in situ labelling (PRINS).
The primed in situ labelling (PRINS) technique, using a newly synthesised alpha 18 oligonucleotide, showed the dicentric pattern and direct chromosome painting established the origin to be from chromosome 18, which showed the paternal origin of the abnormal chromosome.
Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18.
It is confirmed that there is no single region on 18q that is sufficient to produce the trisomy 18 phenotype and identified two regions on 18Q that may work in conjunction to production of the Edwards syndrome phenotype.
Ring-18 and isopseudodicentric-18 in the same child: a hypothesis to account for common origin.
A hypothesis that could account for a common origin of the two cell lines is presented and discussed and the clinical features of this child were compatible with some of the features for each of the syndromes of 18p, 18q, and trisomy 18.
The effect of age on the frequency of sperm chromosomal abnormalities in normal men.
The results do not support the hypothesis of an increased risk of trisomy with paternal age, and there was a significant negative correlation between age and the frequency of hyperhaploid complements and structural abnormalities.
Trisomy 18: studies of the parent and cell division of origin and the effect of aberrant recombination on nondisjunction.
All the maternal errors were associated with an increased maternal age, although this reached significance only for the mat MII category of nondisjunction, and recombination in the nondisjoined chromosomes appeared to be normal.
The possibility of latent centromeres and a proposed nomenclature system for total chromosome and whole arm translocations.
A system of nomenclature is proposed for identifying the origin and nature of these chromosomal rearrangements, and how additional functional centromeres are acquired in the reverse process of chromosomal fission or fragmentation.
Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age
The study of DNA polymorphisms has permitted the determination of the parental and meiotic origin of the supernumerary chromosome 21 in families with free trisomy 21 and there was no preference in the parentalorigin of the duplicated chromosome 21.