Tetrasomy 21pter-->q21.2 in a male infant without typical Down's syndrome dysmorphic features but moderate mental retardation.
Rost
I
I
Fiegler
H
H
Fauth
C
C
Carr
P
P
Bettecken
T
T
Kraus
J
J
Meyer
C
C
Enders
A
A
Wirtz
A
A
Meitinger
T
T
Carter
N P
NP
Speicher
M R
MR
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D000328:Adult; D000782:Aneuploidy; D002675:Child, Preschool; D002871:Chromosome Banding; D019457:Chromosome Breakage / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D004314:Down Syndrome / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D009693:Nucleic Acid Hybridization; D010641:Phenotype; D020161:Physical Chromosome Mapping; D011247:Pregnancy; D013577:Syndrome