The butterfly pattern in a patient with chromosome 7 deletion
نویسندگان
چکیده
منابع مشابه
Identification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease
Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1gene. In the present study, we describe a severe case of ARPKD carrying a point mutation and a novel four-exon deletion of PKHD1 gene. Materials and Methods The PKHD1, PKD1 and PKD2 ...
متن کاملAn interstitial deletion of chromosome 7(q35).
We describe a patient with developmental delay, mild dysmorphic features, and monosomy of 7q35. Only one other patient with an interstitial deletion of this band has been previously reported. A review of clinical features of these two children did not show similarities in dysmorphic features. Reports of patients with other 7q interstitial deletions are listed.
متن کاملA de novo Deletion of Chromosome 18p With Persistent Limb Tremor and Difficulty Speaking: A Case Report
The common causes of 18p deletion syndrome are spontaneous errors in the chromosomal structure in the early stages of human embryonic development. In this study, a 29-year-old girl was introduced with the features of deletion of chromosome 18. In addition, GTG banding karyotype revealed that this case had a deletion involving the short arm of chromosome 18. In comparison with the usual phenotyp...
متن کاملA novel deletion in the Yq-chromosome of a patient with chronic myelomonocytic leukemia
At present the pathogenesis and therapeutic effect of chronic myelomonocytic leukemia (CMML) is still not very clear. There are no specific molecular biology characteristics in it. We report a novel deletion in the Yq chromosome of a patient with CMML, as well as the treatment and prognosis, and review the relevant literature, and put forward that the Y chromosome abnormality may be involved in...
متن کاملDouble deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient
We report on a phenotypically normal 41-year-old azoospermic man with a 45 chromosomes karyotype including one normal chromosome 21, one normal chromosome 22, and a der(22)ins(22;21). Array CGH showed a 1.8 Mb terminal deletion of bands 21pter to 21q21.1 and a 341 kb terminal deletion on band 21q22.3.
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ژورنال
عنوان ژورنال: Journal of Neurosciences in Rural Practice
سال: 2014
ISSN: 0976-3147,0976-3155
DOI: 10.4103/0976-3147.145236