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Chromosome 18, trisomy 18q
Known as:
18q syndrome
, Duplication 18q
, Trisomy 18q
National Institutes of Health
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Related topics
Related topics
2 relations
Broader (2)
Chromosomes, Human, Pair 18
Trisomy
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
Testicular microlithiasis in two boys with a chromosomal abnormality
J. Goede
,
W. Hack
,
F. Pierik
Indian Journal of Urology
2012
Corpus ID: 26953544
A nine and 13-year-old boy, previously diagnosed with 18q syndrome and an 11q deletion, respectively were diagnosed with…
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2007
2007
Precocious puberty associated with partial trisomy 18q and monosomy 11q.
L. Mutesa
,
A. Hellin
,
M. Jamar
,
G. Pierquin
,
V. Bours
,
A. Verloes
Genetic Counseling
2007
Corpus ID: 35033233
We report a 10-years-old female patient with a partial trisomy 18q and monosomy 11q due to a maternal translocation. The…
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1998
1998
Prenatal diagnosis and clinical features of an individual with tetrasomy 18p and trisomy 18q mosaicism.
J. Habecker-Green
,
R. Naeem
,
+5 authors
G. Cohn
Journal of Perinatology
1998
Corpus ID: 27571667
Prenatal diagnosis and clinical follow up of a patient with mosaicism for anomalies of chromosome 18 are reported. The fetus…
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Review
1993
Review
1993
Isochromosome 18q in a girl with holoprosencephaly, DiGeorge anomaly, and streak ovaries.
A. V. van Essen
,
C. Schoots
,
R. V. van Lingen
,
M. Mourits
,
J. Tuerlings
,
Bieke Leegte
American journal of medical genetics
1993
Corpus ID: 26984800
We report on the clinical and pathologic findings in a girl with isochromosome 18q (46, XX,i(18q)) who had combined…
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1993
1993
Triple structural mosaicism of chromosome 18 in a child with MR/MCA syndrome and abnormal skin pigmentation.
E. Bocian
,
T. Mazurczak
,
E. Buława
,
H. Stańczak
,
G. Rowicka
Journal of Medical Genetics
1993
Corpus ID: 7463491
A case of triple mosaicism involving chromosome 18 is described in a girl with abnormal skin pigmentation similar to…
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