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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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2015
2015
Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34
Review
2010
Review
2010
Brain Abnormalities on MR Imaging in Patients with Retinoblastoma
BACKGROUND AND PURPOSE: Although pineoblastoma is the main brain abnormality associated with hereditary retinoblastoma, recent… 
Review
1999
Review
1999
13q deletion syndrome in an adult mentally retarded patient.
Clinical features of the 13q deletion syndrome are difficult to define and include retinoblastoma, mental and growth retardation… 
1996
1996
PRENATAL DIAGNOSIS OF PARTIAL MONOSOMY 13q ASSOCIATED WITH OCCIPITAL ENCEPHALOCOELE IN A FETUS
The pre‐ and postnatal findings of a fetus with a de novo del(13)(pter→q21:) and an occipital encephalocoele are described… 
1991
1991
Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome
SummaryTwo unrelated children presented with similar clinical features (facial dysmorphism and multiple joint dislocations… 
1991
1991
Molecular characterization of a patient with del(1)(q23–q25)
SummaryWe report a patient (S.T.) with multiple congenital anomalies and developmental delay associated with an interstitial… 
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… 
1985
1985
Partial trisomy 5q and partial monosomy 5q within the same family
The observation of partial trisomy for 5q31‐5qter and partial monosomy for the same segment in two offspring within the same… 
1985
1985
9p trisomy/18p distal monosomy and multiple cutaneous leiomyomata
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
An Identical Translocation between Chromosome 1 and 7 in Three Patients with Myelofibrosis and Myeloid Metaplasia
Summary. An identical chromosome abnormality was observed in three unrelated patients with myelofibrosis and myeloid metaplasia… 
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