The smallest de novo deletion of 20q11.21-q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities.
We report on a de novo interstitial deletion of 20q11.21-q11.23 in a 2-year-old girl with a set of dysmorphic features, cleft palate, heart defect, severe feeding problems, failure to thrive, developmental delay, preaxial polydactyly (right thumb), and retinal dysplasia. Interstitial microdeletions of the long arm of chromosome 20 are rare. Exclusively rare are proximal microdeletions involving 20q11-q12 region. Our patient is the fourth described so far and has the smallest deleted region 20q11.21-q11.23 of 5.7 Mb. The defined clinical phenotype of our patient is very similar to previously published cases and confirms the existence of retinal dysplasia and skeletal abnormalities as a part of phenotypic spectrum for deletion 20q11-q12. Description of four similar patients, including two almost identical, suggests a new distinct, phenotypicaly recognizable microdeletion syndrome associated with the loss of 20q11-q12 region.
Podlaskie Center of Clinical Genetics, Bialystok, Bialystok, Poland.
Renata
R
Posmyk
Ryszard
R
Leśniewicz
Magdalena
M
Gogiel
Monika
M
Chorąży
Alina
A
Bakunowicz-Łazarczyk
Danuta
D
Sielicka
Joris
J
Vermeesch
Beata Anna
BA
Nowakowska
D000015:Abnormalities, Multiple / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002890:Chromosomes, Human, Pair 20; D019465:Craniofacial Abnormalities / Q000235:genetics*; D001068:Feeding and Eating Disorders / Q000235:genetics; D005260:Female; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D010641:Phenotype; D015792:Retinal Dysplasia / Q000235:genetics*; D017384:Sequence Deletion
failure to thrive; feeding difficulties; microdeletion 20q; skeletal abnormalities