Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome.
Cytogenetic analysis in a male child with dismorphies and renal anomalies showed an extra bisatellited chromosome. In situ hybridization and an analysis of cytogenetic polymorphisms revealed that the abnormal chromosome derived from a single maternal chromosome 22.
Tupler
R
R
Biologia Generale e Genetica Medica, Università di Pavia, Italy.
Hoeller
A
A
Pezzolo
A
A
Maraschio
P
P
D007446:Chromosome Inversion; D002892:Chromosomes, Human, Pair 22; D003103:Coloboma / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities*; D008297:Male; D005810:Multigene Family; D013577:Syndrome