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Chromosome 8, trisomy 8p

Known as: 8p trisomy, Trisomy 8p, Duplication 8p 
National Institutes of Health

Related topics

Related topics

3 relations
Chromosome 8, monosomy 8p

Broader (2)

Chromosomes, Human, Pair 8Trisomy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2011
2011
Partial trisomy 8p (8p11.2-->pTER) and deletion of 13q (13q32-->qTER): case report.
We report a female infant with partial trisomy 8p (8p11.2-->pter) and deletion of 13q (13q32-->qter). She was born with mild… 
2009
2009
De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence
=Abstract= The Pierre Robin sequence (PRS) is the nonrandom association of micrognathia, cleft palate, and glossoptosis, leading… 
Review
2004
Review
2004
The application of region-specific probes for the resolution of duplication 8p: a case report and a review of the literature
The structural rearrangement in the short arm of a chromosome 8 in a clinically affected patient has been reinvestigated by FISH… 
Review
1993
Review
1993
Inverted duplication of 8p: ten new patients and review of the literature.
We evaluated 10 patients with an inverted tandem duplication of 8p. Inverted duplications of chromosome 8 have been reported… 
Review
1988
Review
1988
Trisomy 8p by malsegregation of a t(5;8)(p15;p11)mat in a case of XY pure gonadal dysgenesis.
A new case of trisomy 8p due to balanced t(5;8)(p15;p11)mat in a phenotypically female infant with a male karyotype is reported… 
1987
1987
Partial duplication 8p due to interstitial duplication: inv dup(8)(p21.1----p22). Further delineation of the phenotype from birth to adulthood.
We report on 2 patients, less than age 5 years, and one adult patient with partial duplication 8p, due to interstitial… 
Review
1985
Review
1985
Partial 8p trisomy due to interstitial duplication: karyotype: 46, XX, inv dup(8) (p21.1→p22)
A 24‐year‐old female with severe mental retardation, congenital malformations and dysmorphic features is described. 8p trisomy… 
Review
1985
Review
1985
Partial 8 trisomy by 3:1 segregation of balanced maternal translocation t(6q+; 8q−)
SummaryWe describe a patient with partial trisomy 8 resulting from maternal translocation, t(6;8)(q27;q11.23). The female newborn… 
1978
1978
924 CYTOGENETIC AND CLINICAL DEFINITION OF TRISOMY 8: BASED ON OBSERVATIONS IN PARTIAL TRISOMY 8(ql3→qter)
Trisomy 8 syndrome is a well documented clinical entity, consisting of mental retardation, micrognathia, cardiac and renal… 
1977
1977
[Chromosome 8 : complete trisomy and segmental trisomies].
The phenotypic effects of trisomy of various segments of chromosome 8 have been recognized through the analysis of twelve… 
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