Partial trisomy 4p resulting from a balanced intrachromosomal insertion, 4(q313p14p16).
Partial trisomy 4p was found in a child with dysmorphic features. Cytogenetic investigations in the parents revealed an intrachromosomal insertion in the mother, 46,XX,ins (4) (q313p14p16). The proband was trisomic for 4p(p14p16) as a result of a recombination event in the mother's chromosome 4 at meiosis. The clinical features of the proband are compared with those found in the literature.
Hastings
R
R
Department of Genetics & Biometry, Galton Laboratories, University College, London, U.K.
Hamer
B
B
Roth
S
S
Lucas
M
M
D002869:Chromosome Aberrations / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4; D004251:DNA Transposable Elements / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D011995:Recombination, Genetic / Q000235:genetics; D012886:Skull / Q000002:abnormalities; D014314:Trisomy
D004251:DNA Transposable Elements