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Chromosome 13q deletion syndrome
Known as:
monosomy 13q
, partial monosomy 13q
, 13q deletion syndrome
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A rare syndrome that is characterized by the partial deletion of the long arm of chromosome 13. Signs and symptoms include low birth weight…
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National Institutes of Health
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Related topics
Related topics
6 relations
Chromosome 13q deletion
Chromosome 13q trisomy
Chromosome Aberrations
Broader (3)
Chromosome Deletion
Chromosomes, Human, Pair 13
Congenital chromosomal disease
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34
M. Mimaki
,
T. Shiihara
,
+7 authors
M. Mizuguchi
Brain & development (Tokyo. )
2015
Corpus ID: 41057666
Review
2010
Review
2010
Brain Abnormalities on MR Imaging in Patients with Retinoblastoma
F. Rodjan
,
P. D. Graaf
,
+4 authors
J. Castelijns
American Journal of Neuroradiology
2010
Corpus ID: 1873120
BACKGROUND AND PURPOSE: Although pineoblastoma is the main brain abnormality associated with hereditary retinoblastoma, recent…
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Review
1999
Review
1999
13q deletion syndrome in an adult mentally retarded patient.
G. Van Buggenhout
,
J. Trommelen
,
B. Hamel
,
J. Fryns
Genetic Counseling
1999
Corpus ID: 36107276
Clinical features of the 13q deletion syndrome are difficult to define and include retinoblastoma, mental and growth retardation…
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1996
1996
PRENATAL DIAGNOSIS OF PARTIAL MONOSOMY 13q ASSOCIATED WITH OCCIPITAL ENCEPHALOCOELE IN A FETUS
Chih-ping Chen
,
Fen‐Fen Liu
,
S. Jan
,
Kuo‐Gon Wang
,
C. Lan
Prenatal Diagnosis
1996
Corpus ID: 8261247
The pre‐ and postnatal findings of a fetus with a de novo del(13)(pter→q21:) and an occipital encephalocoele are described…
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1991
1991
Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome
G. Pierquin
,
N. Regemorter
,
+7 authors
E. Vámos
Human Genetics
1991
Corpus ID: 24470757
SummaryTwo unrelated children presented with similar clinical features (facial dysmorphism and multiple joint dislocations…
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1991
1991
Molecular characterization of a patient with del(1)(q23–q25)
B. Franco
,
L. Lai
,
+7 authors
J. Lupski
Human Genetics
1991
Corpus ID: 2486635
SummaryWe report a patient (S.T.) with multiple congenital anomalies and developmental delay associated with an interstitial…
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1987
1987
Bilateral microphthalmos with cyst and 13q deletion syndrome. Case report.
A. Weiss
,
C. Margo
A M A Archives of Ophthalmology
1987
Corpus ID: 27216504
To the Editor. —We herein report a case of bilateral microphthalmos with cyst and 13q deletion syndrome, the association of which…
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1985
1985
Partial trisomy 5q and partial monosomy 5q within the same family
G. Lazjuk
,
I. Lurie
,
+4 authors
T. Ostrovskaya
Clinical Genetics
1985
Corpus ID: 33815922
The observation of partial trisomy for 5q31‐5qter and partial monosomy for the same segment in two offspring within the same…
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1985
1985
9p trisomy/18p distal monosomy and multiple cutaneous leiomyomata
J. Fryns
,
M. Haspeslagh
,
A. D. Mûelenaere
,
H. Berghe
Human Genetics
1985
Corpus ID: 7893711
SummaryIn this report a severely mentally retarded adult female with 9p trisomy/18pter monosomy is described. In addition to a 9p…
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Highly Cited
1980
Highly Cited
1980
An Identical Translocation between Chromosome 1 and 7 in Three Patients with Myelofibrosis and Myeloid Metaplasia
J. Geraedts
,
G. J. Ottolander
,
J. E. Ploem
,
O. G. Muntinghe
British Journal of Haematology
1980
Corpus ID: 19759118
Summary. An identical chromosome abnormality was observed in three unrelated patients with myelofibrosis and myeloid metaplasia…
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