Cat-like cry and mental retardation owing to 7q interstitial deletion (7q22 leads to 7q32).

AUTOR(ES)

Abuelo, D N

RESUMO

A patient with mental retardation and mild facial dysmorphism had a karyotype which was considered to be normal before the availability of chromosomal banding techniques. She had a history of a cat-like cry and severe feeding problems during infancy. At the age of 9, she was still found to have initial aphonia on trying to initiate sounds. Repeat chromosome analysis with G banding showed an interstitial deletion of the long arm of chromosome 7.

Documentos Relacionados

• Cat eye syndrome owing to tetrasomy 22pter leads to q11.
• Management of asymptomatic aortic stenosis: masterly inactivity but cat-like observation.
• Schizophrenia and mental retardation in an adult male with a de novo interstitial deletion 9(q32q34.1).
• Medical genetics: advances in brief: Evidence for a distinct region causing a cat-like cry in patients with 5p deletions
• Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7.