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Tetrasomy 21pter-->q21.2 in a male infant without typical Down's syndrome dysmorphic features but moderate mental retardation.
- Source :
-
Journal of medical genetics [J Med Genet] 2004 Mar; Vol. 41 (3), pp. e26. - Publication Year :
- 2004
- Subjects :
- Abnormalities, Multiple pathology
Abnormalities, Multiple physiopathology
Adult
Child, Preschool
Chromosome Banding
Chromosome Breakage genetics
Down Syndrome genetics
Female
Humans
In Situ Hybridization, Fluorescence
Infant
Infant, Newborn
Intellectual Disability physiopathology
Male
Middle Aged
Nucleic Acid Hybridization
Phenotype
Physical Chromosome Mapping
Pregnancy
Syndrome
Abnormalities, Multiple genetics
Aneuploidy
Chromosomes, Human, Pair 21 genetics
Intellectual Disability genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1468-6244
- Volume :
- 41
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Journal of medical genetics
- Publication Type :
- Report
- Accession number :
- 14985397
- Full Text :
- https://doi.org/10.1136/jmg.2003.011833