Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization.
The pericentromeric region on 16p appears to be susceptible to chromosomal rearrangements and several patients with rearrangements in this region have been described. We report on a further patient with a microdeletion 16p11.2-p12.2 in the context of described patients with a deletion in the pericentromeric region of 16p. Minor facial anomalies, feeding difficulties, significant delay in speech development, and recurrent ear infections are common symptoms of the microdeletion syndrome 16p11.2-p12.2. All reported patients so far share a common distal breakpoint at 16p12.2 but vary in the proximal breakpoint at 16p11.2. The microdeletion 16p11.2-p12.2 should be distinguished from the approximately 500 kb microdeletion in 16p11.2 which seems to be associated with autism but not with facial manifestations, feeding difficulties, or developmental delay.
Hempel
Maja
M
Institute of Human Genetics, Technische Universität München, Munich, Germany.
Rivera Brugués
Nuria
N
Wagenstaller
Janine
J
Lederer
Gaby
G
Weitensteiner
Andrea
A
Seidel
Heide
H
Meitinger
Thomas
T
Strom
Tim M
TM
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16; D005500:Follow-Up Studies; D006801:Humans; D007805:Language Development Disorders / Q000235:genetics*; D008297:Male; D010031:Otitis / Q000150:complications / Q000235:genetics*; D013577:Syndrome