A patient with Edwards syndrome caused by a rare pseudodicentric chromosome 18 of paternal origin
@article{Gravholt1997APW, 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}, year={1997}, volume={52} }
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…
10 Citations
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
- MedicineAmerican journal of medical genetics. Part A
- 2004
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
- BiologyCytogenetic and Genome Research
- 2007
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.
- MedicineAmerican journal of medical genetics
- 2000
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
- Medicine
- 2001
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
- MedicinePrenatal diagnosis
- 1998
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
- BiologyAmerican journal of medical genetics. Part A
- 2004
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
- Biology, MedicinePrenatal diagnosis
- 2009
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
- BiologyNature Communications
- 2018
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
- MedicineJournal of anatomy
- 2015
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.
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