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Findings from University of Iowa advance knowledge in Down syndrome
2008 FEB 11 -- According to recent research from the United States, "An apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation was described by Gripp et al. [1996]. The authors reported on two unrelated patients with congenital cataracts, sensorineural deafness, distinctive facial appearance, mental retardation, postnatal short stature, and skeletal changes." "We report on two additional patients with findings most similar to the reported patients by Gripp et al. [1996], including bilateral congenital cataracts, hearing loss, craniofacial abnormalities, short stature, skeletal abnormalities, and developmental delay. Both of the patients reported herein had chromosome microarray analysis, which showed normal results in Patient 2 but abnormal results in Patient I and his mother who both had a chromosome 11q25 subtelomere deletion. [MATERIALSXXXMETHODS] I and his mother's findings are atypical for the common findings reported in Jacobsen syndrome (11q terminal deletion syndrome), and consistent with the patients reported by Gripp et al. [1996]. The etiology for these cases has been unknown," wrote K. Kepplernoreuil and colleagues, University of Iowa. The researchers concluded: "The microarray results on Patient I suggest that the other patients with findings of developmental delay, short stature, congenital cataracts, sensorineural hearing loss, and similar craniofacial features may have either a microdeletion of chromosome 11q terminal region or haploinsufficiency of a gene localized to this region." Kepplernoreuil and colleagues published their study in American Journal of Medical Genetics Part a (Syndrome of congenital cataracts, sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation: Two additional cases. American Journal of Medical Genetics Part a, 2007;143A(21):2581-2587). For additional information, contact K. Kepplernoreuil, University of Iowa, Dept. of Pediatrics, Division Med Genetics, 200 Hawkins Dr., Iowa City, IA 52242, USA. Publisher contact information for the American Journal of Medical Genetics Part a is: Wiley-Liss, Division John Wiley & Sons Inc., 111 River St., Hoboken, NJ 07030, USA. Keywords: United States, Iowa City, Audiology, Cataracts, Congenital Cataracts, Craniofacial Abnormalities, Deafness, Developmental Disabilities, Down Syndrome, Genetics, Hearing Loss, Mental Retardation, Ophthalmology, Otolaryngology, University of Iowa. This article was prepared by Mental Health Weekly Digest editors from staff and other reports. Copyright 2008, Mental Health Weekly Digest via NewsRx.com.
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