Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome.
[Bonnet et al. (2010); J Med Genet 47: 377-384] recently suggested a 4q21 microdeletion syndrome with several common features, including severe intellectual disability, lack of speech, hypotonia, significant growth restriction, and distinctive facial features. Overlap of the deleted regions of 13 patients, including a patient we previously reported, delineates a critical region, with PRKG2 and RASGEF1B emerging as candidate genes. Here we provide a detailed clinical report and photographic life history of our previously reported patient. Previous case reports of this new syndrome have not described the prognosis or natural history of these patients.
Department of Medical Genetics, University of British Columbia, Vancouver, Canada. ertsang@interchange.ubc.ca
Erica
E
Tsang
Rosemarie
R
Rupps
Barbara
B
McGillivray
Patrice
P
Eydoux
Marco
M
Marra
Laura
L
Arbour
Sylvie
S
Langlois
Jan M
JM
Friedman
Farah R
FR
Zahir
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000328:Adult; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D013577:Syndrome; D055815:Young Adult