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Chromosome 4, trisomy 4q

Known as: chromosome 4q trisomy, Duplication 4q, 4q syndrome 
National Institutes of Health

Related topics

Related topics

3 relations
4q partial monosomy syndrome

Broader (2)

Chromosomes, Human, Pair 4Trisomy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
Partial trisomy 4q associated with young-onset dopa-responsive parkinsonism.
OBJECTIVE To describe a patient who developed a young-onset, dopa-responsive parkinsonism linked to a de novo heterozygous… Expand
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2004
2004
A dysmorphic boy with 4qter deletion and 4q32.3‐34.3 duplication: Clinical, cytogenetic, and molecular findings
An infant boy presented with trigonocephaly, mild craniofacial features, a small VSD, open ductus Botalli (ODB), bilateral hip… Expand
Review
2004
Review
2004
Partial trisomy 4q syndrome: Case report and review
SummaryThis communication contributes an additional case of partial trisomy for the long arm of chromosome 4[46,XX,t(X;4)(q27;q25… Expand
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2004
2004
Partial trisomy 4q and partial monosomy 18q as a consequence of a paternal balanced translocation t(4q−;18q+)
SummaryIn a 16-month-old girl with stigmata of the 18q- syndrome, the analysis of Giemsa banding patterns displayed a chromosome… Expand
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2004
2004
Partial trisomy 4q due to familial 2/4 translocation
SummaryThe case of a 5-year-old boy with partial trisomy for the long arm of chromosome No. 4 is described. The pattern of… Expand
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Review
2002
Review
2002
Trisomy 4q syndrome: presentation of a new case and review of the literature.
We describe the 11th case of a de novo partial trisomy of the long arm of chromosome 4, with the extra segment spanning from 4q27… Expand
1997
1997
Familial tandem duplication of bands q31.1 to q32.3 on chromosome 4 with mild phenotypic effect.
We describe a family carrying a direct duplication of an interstitial segment of the distal long arm of chromosome 4(q31.1q32.3… Expand
Review
1996
Review
1996
De novo interstitial tandem duplication of chromosome 4(q21-q28).
We describe a girl with a previously unreported de novo duplication of chromosome 4q involving segment q21-q28. Clinical… Expand
1991
1991
Interstitial tandem direct duplication of the long arm of chromosome 4 (q23-q27) and possible assignment of the structural gene encoding human aspartylglucosaminidase to this segment.
We report on a girl with a previously undescribed de novo direct tandem duplication 4q involving the segment q23----q27. Clinical… Expand
1990
1990
Trisomy 4q with morning glory disc anomaly.
The authors describe a case of trisomy 4q with a unilateral morning glory disc anomaly, a previously unreported ocular… Expand
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