De novo 16p deletion: ATR-16 syndrome.
We describe a child with alpha-thalassemia ascertained by newborn screening. Evaluation at 9 months of age showed minor anomalies and developmental delay. Chromosomal analysis demonstrated a de novo deletion of the most distal portion of the short arm of chromosome 16, which contains the alpha-globin genes. Analysis of the alpha-globin locus by Southern blot analysis did not demonstrate altered band sizes at this locus; however, analysis of the films using densitometry confirmed hemizygosity. This is the fifth reported case of the ATR-16 syndrome (alpha-thalassemia retardation-16) not complicated by duplication or deletion of other chromosomes.
Lindor
N M
NM
Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA.
Valdes
M G
MG
Wick
M
M
Thibodeau
S N
SN
Jalal
S
S
D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D013577:Syndrome; D017085:alpha-Thalassemia / Q000235:genetics*