A case of tetrasomy 9p.
A case of mosaic 9p tetrasomy (46,XX/47,XX, + dic[9] [q21]) is reported. Clinical manifestations of the patient were generalized hypotonia, severe mental retardation and characteristic dysmorphic features of 9p tetrasomy. A brief review of the literature is also included.
Andou
R
R
Department of Pediatrics, Osaka Medical College, Japan.
Mimaki
T
T
Ogihara
T
T
Tamai
H
H
Mino
M
M
D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D025063:Chromosome Disorders; D002899:Chromosomes, Human, Pair 9; D002658:Developmental Disabilities / Q000209:etiology; D005183:Failure to Thrive / Q000150:complications; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping