Deletion 14q and pericentric inversion 14.
نویسندگان
چکیده
منابع مشابه
Goldenhar Syndrome and Pericentric Inversion of Chromosome 9
Oculo-auriculovertebral dysplasia (Goldenhar) is a congenital syndrome. Its phenotype differs from craniofacial anomalies to cardiac, vertebral or central nervous system defects. This syndrome is rare and its etiology is not apparent yet. Pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal aberrations with its incidences 15% to 25%. Herein we present ...
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...
متن کاملPrenatal Diagnosis in Pericentric Inversion 6
A four-year-old girl, the proband along with her mother in her subsequent pregnancy was referred to the genetic clinic for evaluation of global developmental delay with a normal karyotype study. On evaluation, dysmorphic features prompted to repeat the karyotype assessment. An unbalanced pericentric inversion of chromosome 6 in the index child was noticed. This was followed by identification of...
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...
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In the present study, we screened the bone marrow chromosome database entries between March, 2004 and December, 2013 to identify cases with inv(9) along with t(9;22) variations. Our study recorded 2300 cases of confirmed CML (Ph positive), of which only 12 (0.52%) cases had inv(9) and t(9;22). The association between inv(9) and t(9;22) is not fully explored. Therefore more number of cases is re...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1978
ISSN: 1468-6244
DOI: 10.1136/jmg.15.3.236