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-Reference-Cited by-同舟云学术

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

Published:2003-11-26 Issue:1 Volume:127A Page:58-64
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Meins M.,Böhm D.,Großmann A.,Herting E.,Fleckenstein B.,Fauth C.,Speicher M.R.,Schindler R.,Zoll B.,Bartels I.,Burfeind Peter

Funder

Deutsche Forschungsgemeinschaft (to M.R.S.)

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference22 articles.

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3. Pseudodicentric chromosome 18 diagnosed by chromosome painting and primed in situ labelling (PRINS);Brandt;J Med Genet,1994

4. Novel isodicentric chromosome 18 in an abnormal infant with a mosaic karyotype [46,XY/46,XY,−18,+dic(18)(q12.2)];Bryke;Am J Med Genet,1990

5. Discrepant karyotypes after second- and third-trimester combined placentacentesis/amniocentesis;Caspari;Prenat Diagn,1994

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1. Clinical, cytogenetic, and molecular findings in a patient with a 46,XX,del(18)(q22)/46,XX,idic(18)(q22) karyotype;European Journal of Medical Genetics;2015-11

2. A Case of Pseudoisodicentric Chromosome 18q Detected at Prenatal Diagnosis;Annals of Laboratory Medicine;2010-08-01

3. Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report;Molecular Cytogenetics;2008-11-11

4. Autosomal Dominant Nonsyndromic Cleft Lip and Palate: Significant Evidence of Linkage at 18q21.1;The American Journal of Human Genetics;2007-07

5. Identification and characterization of a new type of asymmetrical dicentric chromosome derived from a single maternal chromosome 18;Cytogenetic and Genome Research;2007