Jacobsen syndrome: chromosome deletion at 11q23.
A male infant delivered at term to unrelated parents was found to have multiple dysmorphic facial characteristics, abnormal head shape, anemia, thrombocytopenia, a prominent holosystolic heart murmur with multiple cardiac defects, hypotonia, and was small for his gestational age. Karotype revealed a de novo deletion of the long arm of chromosome 11, del (11)(q23), which has been previously described as Jacobsen syndrome. Recent studies have demonstrated that a folate-sensitive fragile site at 11q, band 23, (11q23) may be responsible for this deletion and possibly other syndromes as well.
Clang
D R
DR
Family Practice Residency Program, McLaren Regional Medical Center, Flint, MI 48532, USA.
LaBaere
R J
RJ
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D002880:Chromosomes, Human, Pair 11; D005147:Facial Bones / Q000002:abnormalities; D017809:Fatal Outcome; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D017384:Sequence Deletion; D013577:Syndrome