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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

Papers overview

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Review
2010
Review
2010
BACKGROUND AND PURPOSE: Although pineoblastoma is the main brain abnormality associated with hereditary retinoblastoma, recent… 
Review
1999
Review
1999
Clinical features of the 13q deletion syndrome are difficult to define and include retinoblastoma, mental and growth retardation… 
1996
1996
The pre‐ and postnatal findings of a fetus with a de novo del(13)(pter→q21:) and an occipital encephalocoele are described… 
1991
1991
SummaryTwo unrelated children presented with similar clinical features (facial dysmorphism and multiple joint dislocations… 
1991
1991
SummaryWe report a patient (S.T.) with multiple congenital anomalies and developmental delay associated with an interstitial… 
1987
1987
To the Editor. —We herein report a case of bilateral microphthalmos with cyst and 13q deletion syndrome, the association of which… 
1985
1985
The observation of partial trisomy for 5q31‐5qter and partial monosomy for the same segment in two offspring within the same… 
1985
1985
SummaryIn this report a severely mentally retarded adult female with 9p trisomy/18pter monosomy is described. In addition to a 9p… 
Highly Cited
1980
Highly Cited
1980
Summary. An identical chromosome abnormality was observed in three unrelated patients with myelofibrosis and myeloid metaplasia…