[Interstitial deletion of the long arm of chromosome 7 in a female child with leprechaunism].
A case of interstitial deletion of the long arm of chromosome 7 with probable loss of segment 7q2 is reported in a infant with leprechaunism. This association suggests the possibility of a heterozygous deletion of the normal allele at the leprechaun locus.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D003878:Dermatoglyphics; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007515:Islets of Langerhans / Q000473:pathology; D007621:Karyotyping
Délétion interstitielle du bras long d'un chromosome 7 chez une enfant lepréchaune