about
Severe mental retardation in six generations of a large South African family carrying a translocation t(6;10)(q27;q25.2)Distal 10q trisomy syndrome with unusual cardiac and pulmonary abnormalities.Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 - qter, autism spectrum disorder and unusual featuresIdentification and molecular confirmation of a small chromosome 10q duplication [dir dup(10)(q24.2-->q24.3)] inherited from a mother mosaic for the abnormality.Coloboma and microphthalmos in chromosomal aberrations. Chromosomal aberrations and neural crest cell developmental field.Prenatal diagnosis of sub-microscopic partial trisomy 10q using chromosomal microarray analysis in a phenotypically abnormal fetus with normal karyotype.
P2860
description
1979 nî lūn-bûn
@nan
1979年の論文
@ja
1979年論文
@yue
1979年論文
@zh-hant
1979年論文
@zh-hk
1979年論文
@zh-mo
1979年論文
@zh-tw
1979年论文
@wuu
1979年论文
@zh
1979年论文
@zh-cn
name
Partial trisomy 10q: a recognizable syndrome.
@en
type
label
Partial trisomy 10q: a recognizable syndrome.
@en
prefLabel
Partial trisomy 10q: a recognizable syndrome.
@en
P2093
P356
P1433
P1476
Partial trisomy 10q: a recognizable syndrome.
@en
P2093
H F de France
J B Bijlsma
J M Klep-de Pater
J O van Hemel
M Duijndam-van den Berge
N J Leschot
P2888
P356
10.1007/BF00278899
P577
1979-01-01T00:00:00Z
P6179
1043117786