Tetrasomy 21pter-->q21.2 in a male infant without typical Down's syndrome dysmorphic features but moderate mental retardation

J Med Genet. 2004 Mar;41(3):e26. doi: 10.1136/jmg.2003.011833.

Authors

I Rost, H Fiegler, C Fauth, P Carr, T Bettecken, J Kraus, C Meyer, A Enders, A Wirtz, T Meitinger, N P Carter, M R Speicher

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / pathology
Abnormalities, Multiple / physiopathology
Adult
Aneuploidy*
Child, Preschool
Chromosome Banding
Chromosome Breakage / genetics
Chromosomes, Human, Pair 21 / genetics*
Down Syndrome / genetics
Female
Humans
In Situ Hybridization, Fluorescence
Infant
Infant, Newborn
Intellectual Disability / genetics*
Intellectual Disability / physiopathology
Male
Middle Aged
Nucleic Acid Hybridization
Phenotype
Physical Chromosome Mapping
Pregnancy
Syndrome