3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age.
We report a patient with mental retardation, epilepsy, overgrowth, delayed bone age, peculiar facial features, corpus callosum hypoplasia, enlarged cisterna magna and right cerebellar hypoplasia. Array-CGH analysis revealed the presence of a de novo 3.2 Mb interstitial deletion of the long arm of chromosome 7 involving bands q22.2-q22.3. The rearrangement includes 15 genes and encompasses a genomic region that represents a site of frequent loss of heterozygosity in myeloid malignancies. Four genes are implicated in the control of cell cycle: SRPK2, MLL5, RINT1 and LHFPL3. Haploinsufficiency of these genes might therefore be associated with overgrowth and could confer susceptibility to cancers or other tumours, so that attention to this possibility would be appropriate during regular medical review. In conclusion, array-CGH analysis should be performed in patients with overgrowth where the known causes have already been excluded, because some still unclassified overgrowth syndromes may be caused by subtle genomic imbalances.
Uliana
Vera
V
Medical Genetics, University of Siena, Italy.
Grosso
Salvatore
S
Cioni
Maddalena
M
Ariani
Francesca
F
Papa
Filomena T
FT
Tamburello
Silvia
S
Rossi
Elisa
E
Katzaki
Eleni
E
Mucciolo
Mafalda
M
Marozza
Annabella
A
Pollazzon
Marzia
M
Mencarelli
Maria Antonietta
MA
Mari
Francesca
F
Balestri
Paolo
P
Renieri
Alessandra
A
D001842:Bone and Bones / Q000473:pathology; D002453:Cell Cycle; D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D055028:Comparative Genomic Hybridization; D003337:Corpus Callosum / Q000473:pathology; D019066:Facies; D006130:Growth Disorders / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D013577:Syndrome