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Chromosome 13q deletion syndrome

Known as: monosomy 13q, partial monosomy 13q, 13q deletion syndrome 
A rare syndrome that is characterized by the partial deletion of the long arm of chromosome 13. Signs and symptoms include low birth weight… 
National Institutes of Health

Related topics

Related topics

6 relations
Chromosome 13q deletionChromosome 13q trisomyChromosome Aberrations

Broader (3)

Chromosome DeletionChromosomes, Human, Pair 13Congenital chromosomal disease

Papers overview

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Review
2016
Review
2016
22.5 MB DELETION OF 13q31.1-q34 ASSOCIATED WITH HPE, DWM, AND HSCR: A CASE REPORT AND REDEFINING THE SMALLEST DELETED REGIONS.
Partial deletion of the long arm of the chromosome 13, 13q deletion syndrome is a rare chromosomal disorder characterized by… 
2011
2011
A genetic combination ofsilent 3-thalassaemia, high HbA, (-thalassaemia, andsingle ocglobin genedeletion causing mild thalassaemia intermedia
Compound heterozygotes for 'silent' r-thalassaemia and high Hb A2 r-thalassaemia, either of the PO or --I type, show a variable… 
2007
2007
School of the school of Leon Abgarovich Orbeli
In 2007, L. A. Orbeli would have been 125. He was distinguished by extremely wide scientific interrests; he created one of the… 
1997
1997
[Partial 3q-trisomy (q22-qter) monosomy 13q (q32-qter) by translocation between paternal chromosome 3 and 13].
1987
1987
Bilateral microphthalmos with cyst and 13q deletion syndrome. Case report.
To the Editor. —We herein report a case of bilateral microphthalmos with cyst and 13q deletion syndrome, the association of which… 
1987
1987
Ocular abnormalities accompanying chromosome 13 defects.
To the Editor. —The case report by Weiss and Margo 1 nicely documents bilateral microphthalmos with cyst associated with 13q… 
1986
1986
Partial monosomy 13q and partial trisomy 18p: case report with necropsy findings.
We describe a stillborn female infant with severe intrauterine growth retardation and multiple congenital anomalies. She was… 
1982
1982
[Leon Abgarovich Orbeli (on the centenary of his birth)].
1982
1982
[Leon Abgarovich Orbeli in Kiev (on the centenary of his birth)].
1980
1980
New chromosomal syndromes. III. The 13q deletion syndrome.