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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… Expand
National Institutes of Health

Papers overview

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2012
2012
13q deletion syndrome is a rare genetic disorder caused by deletions of the long arm of chromosome 13. Patients with 13q deletion… Expand
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2011
2011
IntroductionThe co-occurrence of ring chromosome 13 syndrome and 47, XYY syndrome in the same individual is rare. To the best of… Expand
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Highly Cited
2009
Highly Cited
2009
13q deletion is characterized by a wide phenotypic spectrum resulting from a partial deletion of the long arm of chromosome 13… Expand
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2009
2009
Waardenburg-Shah syndrome (Waardenburg syndrome type IV-WS4) is an auditory-pigmentary disorder that combines clinical features… Expand
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2005
2005
The authors describe a case of a male foetus whose ultrasound at 20 weeks' gestation revealed cystic hygroma, cleft lip and… Expand
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Review
2005
Review
2005
We report on a fetus with a large deletion of the distal part of the long arm of chromosome 13, (del(13)(q14 --> qter… Expand
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2000
2000
Neural tube defects (NTD) are common findings in the 13q deletion syndrome, but the relationship between the 13q- syndrome and… Expand
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Review
1999
Review
1999
Clinical features of the 13q deletion syndrome are difficult to define and include retinoblastoma, mental and growth retardation… Expand
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Highly Cited
1992
Highly Cited
1992
Mutations of exons 5 to 8 of the p53 gene were looked for in 39 cases of B-cell chronic lymphocytic leukemia (CLL) using… Expand
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1991
1991
SummaryTwo unrelated children presented with similar clinical features (facial dysmorphism and multiple joint dislocations… Expand
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