Interstitial deletion of the short arm of chromosome 2 in a mother and child, with facial dysmorphism and mild learning difficulties.
We report a mother and son with an interstitial deletion of chromosome 2: del(2)(p21p22.2). Both have mildly dysmorphic facial features and learning difficulties. This phenotype contrasts with two previously described cases with a similar deletion that presented with cyclopia and alobar holoprosencephaly.
Armstrong
Ruth
R
Cheshire and Merseyside Medical Genetics Service, Department of Clinical Genetics, Royal Liverpool Children's Hospital, Alder Hey Cheshire and Merseyside Regional Molecular Genetics Laboratory, Liverpool Women's NHS Foundation Trust Merseyside and Cheshire Regional Genetics Laboratory, Liverpool Women's NHS Foundation Trust, Liverpool Community Child Health, Children's Centre, Southport Regional Cytogenetics Laboratory, Southmead Hospital, Bristol, UK.
Ellis
Ian
I
Kightley
Catherine
C
Sethi
Vijay Dinanadh
VD
McCarthy
Emma
E
Maye
Una
U
White
Gillian
G
D000328:Adult; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D016142:Holoprosencephaly / Q000235:genetics; D006801:Humans; D007859:Learning Disabilities / Q000235:genetics*; D008297:Male; D010641:Phenotype