Evidence for a new microdeletion syndrome in 15q21.
We report on the fourth known case with an interstitial deletion in 15q21. In the present case the breakpoints have been determined by GTG-banding, microdissection and the recently developed multicolor banding (MCB) technique as 15q21.1-q21.3. Common features in all four cases are mental retardation, growth retardation, a beak-like nose with hypoplastic alae nasi and a thin upper lip. Additional frequent features are small hands and feet, hypotonia, low hair implantation, low set ears, clinodactyly and obesity. The possibility that a critical region for a new microdeletion-syndrome is situated in 15q21 is discussed.
Liehr
T
T
Institut für Humangenetik und Anthropologie, Postfach, D-07740 Jena, Germany. i8lith@mti-n.mti.uni-jena.de
Starke
H
H
Heller
A
A
Weise
A
A
Beensen
V
V
Senger
G
G
Kittner
G
G
Prechtel
M
M
Claussen
U
U
Seidel
J
J
D000015:Abnormalities, Multiple / Q000235:genetics; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D019465:Craniofacial Abnormalities / Q000235:genetics; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D013577:Syndrome