Karyotype 47,XXY,18p--in a newborn child with holoprosencephaly.
This may be the first reported case of a 47,XXY,18p--("Klinefelter-de Grouchy I syndrome"), in a post-term male neonate. The child had a dysmorphic facies, a small nose with a single orifice, cranial malformations and an alobar holoprosencephaly. These symptoms corresponded with the known phenotypic variants of the simple 18p--anomaly. The karyotypes of both parents were normal.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002902:Chromosomes, Human, 16-18; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000235:genetics* / Q000473:pathology; D008297:Male