Effective monosomy or trisomy of chromosome band 2q37.3 due to the unbalanced segregation of a 2;11 translocation.
We report a seven generation family in which a 2;11 chromosome translocation is segregating. Both unbalanced segregants have been found in the family, and cytogenetic analysis demonstrates that this results in effective monosomy or trisomy for chromosome band 2q37.3. Those family members who are monosomic exhibit a variable phenotype with a number of features associated with an Albright's Hereditary Osteodystrophy-like phenotype (AHO-like) whilst those who are trisomic have a phenotypic spectrum ranging from mild facial anomalies and growth retardation to apparent normality. The latter group of patients represent the first reported patients with pure trisomy for chromosome band 2q37.3.
Batstone
Paul J
PJ
Cytogenetics Laboratory, Pathology Department, Highland Acute Hospitals NHS Trust, Raigmore Hospital, Inverness, Scotland, United Kingdom. paul.batstone@raigmore.scot.nhs.uk
Simpson
Sheila
S
Bonthron
David T
DT
Keng
Wee T
WT
Hamilton
Doreen
D
Forsyth
Linda
L
Sales
Mark
M
Pratt
Norman
N
Goudie
David
D
D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002880:Chromosomes, Human, Pair 11; D002889:Chromosomes, Human, Pair 2; D005192:Family Health; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D010375:Pedigree; D010641:Phenotype; D013997:Time Factors; D014178:Translocation, Genetic; D014314:Trisomy