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Cita

The 48, XXXX chromosome constitution is a rare aneuploidy which shows some peculiar manifestations in affected females. This first report from India of tetrasomy X with bilateral, typical, complete coloboma of iris, shows the importance of chromosomal investigation and fluorescent in situ hybridization (FISH) in females with mental retardation and dysmorphic features.

ISSN:
1311-0160
Lingua:
Inglese
Frequenza di pubblicazione:
2 volte all'anno
Argomenti della rivista:
Medicine, Basic Medical Science, other