Euchromatic 16p+ heteromorphism: first report in North America.
A heteromorphism of the short arm of 16 (16p+) was discovered in 2 unrelated infants. By G banding, the euchromatic variant appears as a light and a medium dark band just distal to the centromere. This results in an increase of the short arm by about 1/3. The same variant was present in the normal father and the normal paternal grandmother in one family and mildly retarded mother in the 2nd family. The anomalies of the 2 infants are not similar and are apparently unrelated to the 16p+ variant. Though the discovery of such euchromatic variants is highly significant for clinical diagnosis, their genetic significance and mode of origin remain to be elucidated.
Jalal
S M
SM
Cytogenetics Laboratory, Texas Genetic Screening & Counseling Service, Denton 76201.
Schneider
N R
NR
Kukolich
M K
MK
Wilson
G N
GN
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002885:Chromosomes, Human, Pair 16; D005145:Face / Q000002:abnormalities*; D014644:Genetic Variation; D006130:Growth Disorders / Q000235:genetics; D006570:Heterochromatin / Q000737:chemistry; D006801:Humans; D007021:Hypospadias / Q000235:genetics; D007223:Infant; D008297:Male
D006570:Heterochromatin