Samenvatting
We report for the first time an individual of Zulu origin with the Pallister-Killian syndrome. Apart from the commonly reported clinical signs, he also had frenula in all four quadrants of the mouth. A broad, short hallux was present. An unusually high level of mosaicism for the isochromosome 12p was found in the lymphocytes.
Originele taal-2 | English |
---|---|
Pagina's (van-tot) | 33-36 |
Aantal pagina's | 4 |
Tijdschrift | Genetic Counseling (Geneva, Switzerland) |
Volume | 6 |
Nummer van het tijdschrift | 1 |
Status | Published - 1995 |