Normal adaptive function with learning disability in duplication 8p including band p22.
Duplication 8p usually results in a syndrome characterized by profound mental retardation, mild facial anomalies, and malformations of hand, heart, and brain. We report on a large kindred segregating a Y;8 translocation in whom several individuals have duplication 8p22-->8pter. These individuals have normal adaptive function despite their unbalanced karyotype. The family was studied with G-banding and fluorescent in situ hybridization (FISH) using probes to chromosomes 8 and Y. Comparison of this family with other reported cases defines a mild clinical outcome for trisomy 8p22-->8pter in contrast to the severe findings when the duplication involves a longer, more proximal segment.
New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314, USA.
S S
SS
Sklower Brooks
M
M
Genovese
H
H
Gu
C J
CJ
Duncan
A
A
Shanske
E C
EC
Jenkins
D000222:Adaptation, Physiological; D002871:Chromosome Banding; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007859:Learning Disabilities / Q000235:genetics*; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic; D014998:Y Chromosome