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Partial Trisomy

Known as: Partial Trisomies, Trisomies, Partial, Trisomy, Partial 
National Institutes of Health

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Trisomy

Papers overview

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2006
2006
Two cases of partial trisomy 21 (pter‐q22.1) without the major features of Down syndrome
We report two cases of partial trisomy 21 with clinical features distinct from Down syndrome (DS). These patients presented with… 
2000
2000
Prenatal diagnosis of a partial trisomy 19q
Phenotypic anomalies due to a genetic imbalance of chromosome 19 have been reported in very rare postnatal cases. Here a case of… 
Highly Cited
1995
Highly Cited
1995
A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart.
Down syndrome is a major cause of mental retardation and congenital heart defects. While most of the affected individuals have… 
1990
1990
MONOZYGOTIC TWINS DISCORDANT FOR PARTIAL TRISOMY 1
A 25-year-old primigravida delivered monozygotic twins discordant for multiple anomalies and partial trisomy 1 mosaicism. The… 
1977
1977
Partial trisomy 22: A recognizable syndrome
A patient identified as being a partial trisomy 22 mosaic is presented. The presence of a translocation t(4;22) (pter;q12) is… 
1977
1977
Familial partial trisomy 15.
A family, including two sibs with partial trisomy 15 is described. Maternal chromosome analysis revealed 46,XX/47,XX,+15q… 
1976
1976
Partial and complete trisomy 9: Delineation of a trisomy 9 syndrome
SummaryTwo infants with trisomy involving chromosome 9 are described. One had complete trisomy 9 and the other karyotype 47,XX… 
1976
1976
Partial trisomy of the long arm of chromosome 7
A baby with partial trisomy 7, 46, XY, t (5;7) (q35;q31) resulting from a familial trans‐location (5qf,7q‐) is reported. The… 
1975
1975
An inherited translocation t(4;15) (p16;q22) leading to two cases of partial trisomy 15.
A four year old girl with severe mental retardation and multiple congenital abnormalities manifested "partial trisomy 15". Her… 
1967
1967
Three unusual trisomic patterns in children. Triple X plus triple E-triple X mosaic: normal XY-D trisomy mosaic; partial trisomy with E translocation.
EXTENSIVE data and increasingly diversified patterns have accumulated since the first reports of chromosomal trisomies in man. 1… 
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