منابع مشابه
Terminal deletion (14)(q32.3): a new case.
A mildly dysmorphic, 2 year old girl with mental retardation was found to have a small de novo terminal deletion of the long arm of chromosome 14, del(14)(q32.3). She was found to have features in common with two previous terminal deletion cases and particularly with the well documented ring 14 syndrome, although seizures, a characteristic feature of ring 14, were notably absent.
متن کاملTerminal 6p deletion syndrome mimicking CHARGE syndrome: A case report.
The clinical features associated with terminal 6p deletion syndrome include anterior eye chamber defects, hearing loss, congenital heart anomalies and characteristic facies along with developmental delays. These features overlap with a number of other conditions including CHARGE syndrome. This acronym stands for non-random association of anomalies including coloboma of the eye, heart anomalies,...
متن کاملInterstitial deletion of chromosome 10q23: a new case and review.
A new case of a deletion of 10q23 is described. Only two other deletions involving this region have been previously noted. A review of clinical features of these three children did not show a distinct pattern of dysmorphic features. Other interstitial deletions of 10q are listed.
متن کاملA Case of 9.7 Mb Terminal Xp Deletion Including OA1 Locus Associated with Contiguous Gene Syndrome
Terminal or interstitial deletions of Xp (Xp22.2→Xpter) in males have been recognized as a cause of contiguous gene syndromes showing variable association of apparently unrelated clinical manifestations such as Leri-Weill dyschondrosteosis (SHOX), chondrodysplasia punctata (CDPX1), mental retardation (NLGN4), ichthyosis (STS), Kallmann syndrome (KAL1), and ocular albinism (GPR143). Here we pres...
متن کاملDental findings in 14q terminal deletion syndrome.
Departments of Pediatrics, Laboratory Medicine, Orofacial Sciences, Program in Craniofacial and Mesenchymal Biology and Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA Correspondence to Ophir D. Klein, MD, PhD, Department of Pediatrics, University of California San Francisco, 513 Parnassus Ave, HSE1509, San Francisco, CA 94143, USA Tel: + 1 4...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1990
ISSN: 1468-6244
DOI: 10.1136/jmg.27.4.261