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Chromosome 3, trisomy 3q

Known as: 3q duplication syndrome, Duplication 3q, Trisomy 3q 
 
National Institutes of Health

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3 relations

Broader (2)

Chromosomes, Human, Pair 3Trisomy
chromosome 3q deletion syndrome

Papers overview

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2013
2013
Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints…
We present rapid aneuploidy diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal… Expand
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2012
2012
Prenatal diagnosis of partial trisomy 3q resulting from t(3;14) in a fetus with multiple anomalies including vermian hypoplasia.
While genetic origin of Dandy-Walker complex has not yet fully elucidated, the complex has been known to be associated with… Expand
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2010
2010
Delineation of the breakpoints of pure duplication 3q due to a de novo duplication event using SOMA.
 
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2009
2009
"Essentially" pure trisomy 3q27 --> qter: further delineation of the partial trisomy 3q phenotype.
Partial duplication 3q is a well defined clinical entity characterized by growth retardation, cryptorchism, microcephaly, and… Expand
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2005
2005
A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome.
We report a newborn girl with intrachromosomal triplication of 3q25.3 --> q29 (mosaicism) who died at the age of 3.5 weeks due to… Expand
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2004
2004
A case of pure partial duplication 3q in a fetus due to a maternally inherited der(5)ins(5;3)(q33.1;q26.2q27) delineated by FISH.
 
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2003
2003
Omphalocele in trisomy 3q: further delineation of phenotype.
We report a case of a patient with omphalocele, dysmorphic features, and mild developmental delay associated with a chromosomal… Expand
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2003
2003
Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndrome.
Partial duplication of chromosome 3q is a well-described condition of multiple congenital anomalies and developmental delay that… Expand
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Review
1986
Review
1986
Diagnosis of chromosome 3 duplication q23----qter, deletion p25----pter in a patient with the C (trigonocephaly) syndrome.
The cells of a deceased patient previously reported to have the C (trigonocephaly) syndrome were reinvestigated because his… Expand
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1979
1979
Trisomy 3q : two clinically similar but cytogenetically different cases.
The clinical and cytogenetic findings in two unrelated infants both trisomic for differing amounts of the long arm of chromosome… Expand
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