In:
Pediatrics, American Academy of Pediatrics (AAP), Vol. 33, No. 6 ( 1964-06-01), p. 904-911
Kurzfassung:
A case of a two-year-old male child with dwarfism and failure to thrive, having a chromatin-positive buccal smear and 47 chromosomes, with XXY sex chromosomes, is presented. The testicular biopsy supports the diagnosis of Klinefelter's syndrome. Most adult patients with Klinefelter's syndrome are tall, but this case suggests that it may be useful to perform buccal smears for nuclear sex determination in dwarfed children with male phenotype, when a definitive diagnosis is not readily evident.
Materialart:
Online-Ressource
ISSN:
0031-4005
,
1098-4275
DOI:
10.1542/peds.33.6.904
Sprache:
Englisch
Verlag:
American Academy of Pediatrics (AAP)
Publikationsdatum:
1964
ZDB Id:
1477004-0
Permalink