Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion
نویسندگان
چکیده
منابع مشابه
Trichorhinophalangeal Syndrome
Submit Manuscript | http://medcraveonline.com (Figures 1 & 2). Intellectual development was normal and absence of similar cases in the family. The laboratory tests requested were hemogram, electrolytes, albumin, glycemia, thyrotrophic hormone, parathyroid hormone, vitamin D and zinc; all normal. Radiographs showed bone changes of the phalanges, with cone-shaped epiphyses (Figure 3) and advanced...
متن کاملTrichorhinophalangeal Syndrome
Submit Manuscript | http://medcraveonline.com (Figures 1 & 2). Intellectual development was normal and absence of similar cases in the family. The laboratory tests requested were hemogram, electrolytes, albumin, glycemia, thyrotrophic hormone, parathyroid hormone, vitamin D and zinc; all normal. Radiographs showed bone changes of the phalanges, with cone-shaped epiphyses (Figure 3) and advanced...
متن کاملTrichorhinophalangeal syndrome type II presenting with short stature in a child.
Trichorhinophalangeal syndrome type II (TRPSII) (synonym: Langer-Giedon syndrome) is a rare autosomal dominant contiguous gene syndrome, resulting from a microdeletion encompassing the EXT1 and the TRPS1 gene at 8q24 (MIM#150230). This syndrome combines the clinical features of two autosomal dominant disorders, trichorhinophalangeal syndrome type I (MIM#190350) and hereditary multiple osteochon...
متن کاملTrichorhinophalangeal Syndrome
Trichorhinophalangeal syndrome (TRPS) is the collective name of three rare congenital conditions characterised by craniofacial and skeletal abnormalities. The three known types of TRPS have different modalities of genetic transmission: namely, TRPS I and III are inherited as an autosomal dominant disease, while the cases of TRPS II are essentially sporadic. The diagnosis of the different types ...
متن کاملA 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I.
We report on an 11 year old girl with trichorhinophalangeal syndrome type I (TRPS1), postaxial polydactyly of the fingers, and a de novo paracentric inversion on the long arm of chromosome 8 involving bands q13.1 and q24.11. Molecular analysis using FISH and polymorphic DNA markers detected an approximately 4 Mb, cytogenetically unidentified deletion occurring between two STSs markers, AFMB331Y...
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ژورنال
عنوان ژورنال: Molecular Cytogenetics
سال: 2015
ISSN: 1755-8166
DOI: 10.1186/s13039-015-0201-0