De novo interstitial deletion q16.2q21 on chromosome 6.
A de novo interstitial deletion of 6q16.2q21 was observed in a 23-month-old boy with mental and psychomotor delay, obese appearance, minor craniofacial anomalies, and brain anomalies. We compare clinical manifestations of this patient with those observed in previously reported cases with similar 6q interstitial deletions. It is interesting to note the clinical similarities between some patients with interstitial deletions of 6q16 or q21 bands and patients with Prader-Willi syndrome (PWS) and it may help to keep in mind cytogenetic studies of patients with some PWS findings.
Villa
A
A
ECEMC, Hospital Universitario San Carlos, Madrid, Spain.
Urioste
M
M
Bofarull
J M
JM
Martínez-Frías
M L
ML
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D009765:Obesity / Q000235:genetics; D011218:Prader-Willi Syndrome / Q000175:diagnosis; D012886:Skull / Q000002:abnormalities