Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities.
نویسندگان
چکیده
منابع مشابه
A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities.
An interstitial deletion of the region q22.1-->q22.3 of chromosome 14 is described in a child with bilateral anophthalmia, dysmorphic features including micrognathia, small tongue, and high arched palate, developmental and growth retardation, undescended testes with a micropenis, and hypothyroidism. Interstitial deletions of the long arm of chromosome 14 are extremely rare, but this case seems ...
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Absent septal q wave and other abnormalities" (2005).
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 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 of de novo proximal interstitial deletion of 14q associated with cebocephaly.
We report on the prenatal diagnosis of a case of cebocephaly, alobar holoprosencephaly, and microcephaly associated with a de novo proximal interstitial deletion of the long arm of chromosome 14: del(14)(q13q21.1) or (q13q21.2). This is the third case of holoprosencephaly in association with a deletion in this region. The present report concerns the association between prenatal craniofacial dev...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1991
ISSN: 1468-6244
DOI: 10.1136/jmg.28.4.280