Dental findings in 14q terminal deletion syndrome.
نویسندگان
چکیده
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: + 1 415 476 4719; fax: + 1 415 476 9513; e-mail: [email protected]
منابع مشابه
Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature.
A variety of ocular anomalies have been described in the rare ring 14 and 14q terminal deletion syndromes, yet the character, prevalence, and extent of these anomalies are not well defined. Identification of these ocular anomalies can be central to providing diagnoses and facilitating optimal individual patient management. We report a child with a 14q32.31 terminal deletion and ring chromosome ...
متن کاملA terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation.
A female child with a terminal deletion on the long arm of chromosome 14, 46,XX,del(14)(q31.1), presented with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and a small haemangioma on the back. She was mildly mentally retarded. Only a few patients with a partial deletion of 14q (14q-) have been reported without consistent clinical findings. Although a clinical syndrome as...
متن کاملTerminal 14q Deletion and Duplication with Gastrointestinal and Pulmonary Disease
With only twenty reported cases, features of the rare 14q terminal deletion syndrome include developmental disabilities, microcephaly, growth delay, hypotonia and varied dysmorphisms [1-4]. Ophthalmologic, cardiac, neural, renal and genitourinary anomalies are associated [5,6]. Rare features include limb anomalies, recurrent otitis media and seizure disorder [1,6]. In contrast to 14q terminal d...
متن کاملNovel proximal 14q deletion: clinical and diffusion tensor imaging tractography findings in a patient with lissencephaly, agenesis of the corpus callosum, and septo-optic dysplasia.
We report the unique CNS findings in a patient with a proximal chromosome 14q interstitial deletion. Conventional MR imaging allowed the clear delineation of agenesis of the corpus callosum, SOD, and diffuse lissencephaly. DTI tractography played a significant role in the evaluation of the proximal 14q deletion-associated abnormalities, delineating the extent of the dysmorphic connections of th...
متن کاملDe novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia.
We present the perinatal findings of a fetus with a de novo unbalanced chromosome translocation that resulted in monosomy for proximal 14q and monosomy for distal 4p. Prenatal sonographic examination at 27 weeks of gestation showed intrauterine growth retardation, microcephaly, cardiomegaly with arrhythmia, and asymmetry of the upper limbs. Genetic amniocentesis showed an abnormal karyotype of ...
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ورودعنوان ژورنال:
- Clinical dysmorphology
دوره 23 2 شماره
صفحات -
تاریخ انتشار 2014