A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome.
Patients with distal deletions of chromosome 1q have a recognizable syndrome that includes microcephaly, hypoplasia or agenesis of the corpus callosum, and psychomotor retardation. Although these symptoms have been attributed to deletions of 1q42-1q44, the minimal chromosomal region involved has not been identified. Using microsatellite and single nucleotide polymorphism (SNP) markers, we have mapped the deleted regions in seven patients with terminal deletions of chromosome 1q to define a 2.0-Mb microcephaly critical region including the 1q43-1q44 boundary and no more than 11 genes.
Hill
Anthony D
AD
Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02115, USA.
Chang
Bernard S
BS
Hill
R Sean
RS
Garraway
Levi A
LA
Bodell
Adria
A
Sellers
William R
WR
Walsh
Christopher A
CA
D000293:Adolescent; D061085:Agenesis of Corpus Callosum; D001921:Brain / Q000473:pathology; D002648:Child; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D005260:Female; D006801:Humans; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D011596:Psychomotor Disorders / Q000235:genetics; D012640:Seizures / Q000235:genetics
D004247:DNA