Deletion 15q21.1----q22.1 resulting from a paternal insertion into chromosome 5.
A 15 month old boy with an interstitial deletion 15q derived from a paternal insertion (5;15)(q31.3;q21.1q22.1) is described and compared with one other reported case. A beak like nose with hypoplastic nasal alae, a thin upper lip, failure to thrive in infancy with later onset of obesity, and severe mental retardation are features common to both.
Cytogenetics Unit, Prince of Wales Hospital, Sydney, Australia.
M Y
MY
Yip
M
M
Selikowitz
N
N
Don
A
A
Kovacic
S
S
Purvis-Smith
P R
PR
Lam-Po-Tang
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D002895:Chromosomes, Human, Pair 5; D006801:Humans; D007223:Infant; D008297:Male