Deletion of 16q with prolonged survival and unusual radiographic manifestations.
Deletion of 16q is characterized by mental retardation, microcephaly, a characteristic combination of minor facial anomalies, and broad halluces. Various break points have been described. This patient's phenotype is typical of this syndrome, but in addition, unusual radiographic findings were present. This chromosome abnormality is compatible with survival into adulthood. Expression of this phenotype does not appear to be correlated with specific break points.
Casamassima
A C
AC
Department of Pediatrics, New York Medical College, Valhalla.
Klein
R M
RM
Wilmot
P L
PL
Brenholz
P
P
Shapiro
L R
LR
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000293:Adolescent; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002873:Chromosome Fragility; D002885:Chromosomes, Human, Pair 16; D005147:Facial Bones / Q000002:abnormalities; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008159:Lumbar Vertebrae / Q000000981:diagnostic imaging; D008297:Male; D011859:Radiography; D013122:Spinal Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D013904:Thoracic Vertebrae / Q000000981:diagnostic imaging