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Chromosome 3, monosomy 3p

Known as: 3p- SYNDROME, chromosome 3p deletion syndrome, CHROMOSOME 3pter-p25 DELETION SYNDROME 
National Institutes of Health

Related topics

Related topics

18 relations
Autosomal dominant inheritanceBlepharophimosisBlepharoptosisBrachycephaly

Broader (2)

Chromosome DeletionChromosomes, Human, Pair 3

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2010
2010
Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3‐p26.1
Distal chromosome 3p deletions (3p‐ syndrome) are associated with various developmental defects. The majority of cases have a… 
Highly Cited
2009
Highly Cited
2009
Microarray based analysis of 3p25‐p26 deletions (3p‐ syndrome)
Distal deletion of chromosome 3p25‐pter (3p‐ syndrome) produces a distinct clinical syndrome characterized by low birth weight… 
Highly Cited
2006
Highly Cited
2006
FISH and array‐CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions
Imbalances of 3p telomeric sequences cause 3p− and trisomy 3p syndrome, respectively, showing distinct, but also shared clinical… 
Highly Cited
2002
Highly Cited
2002
Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome.
Deletion 3p syndrome is associated with characteristic facial features, growth failure, and mental retardation. Typically… 
Highly Cited
2000
Highly Cited
2000
Detailed mapping of a congenital heart disease gene in chromosome 3p25
Distal deletion of chromosome 3p25-pter (3p− syndrome) produces a distinct clinical syndrome characterised by low birth weight… 
Highly Cited
1999
Highly Cited
1999
CALL gene is haploinsufficient in a 3p- syndrome patient.
The 3p- syndrome results from deletion of a terminal segment of the short arm of one chromosome 3 (3p25-->pter), and is… 
Highly Cited
1998
Highly Cited
1998
In silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion molecules
To discover genes contributing to mental retardation in 3p- syndrome patients we have used in silico searches for neural genes in… 
Highly Cited
1996
Highly Cited
1996
Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome.
In patients with the 3p-syndrome, hemizygous deletion of 3p25-pter is associated with profound growth failure, characteristic… 
1996
1996
Chromosomal abnormalities in HPV-16-immortalized oral epithelial cells.
Human papilloma virus (HPV) type 16 has an established association with anogenital carcinoma, and to some extent with human oral… 
1994
1994
Molecular genetic analysis of the 3p- syndrome.
Molecular genetic analysis of five cases of 3p- syndrome (del(3)(qter-->p25:)) was performed to investigate the relationship… 
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