A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia.
نویسندگان
چکیده
منابع مشابه
Pattern of aganglionic megacolon in Calabar, Nigeria.
Hirschsprung's disease, a congenital condition resulting in functional intestinal obstruction, was seen in 21 children at the University of Calabar Teaching Hospital (UCTH) between January 1996 and December 1998. Late presentation of patients to hospital was observed and was attributed to ignorance and poverty. Patients presented only when repeated herbal enemas no longer offered relief. The ma...
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Renal hypoplasia refers to a congenitally small kidney where there is essentially normal residual parenchyma but smaller calyces, lobules, and papillae. This anomaly can be divided into two broad groups: complete (global) renal hypoplasia and segmental renal hypoplasia. In this study, a 3 days-old simmental calf was diagnosed with renal hypoplasia and unreconstructed exstrophic bladder. It pres...
متن کاملMale-Biased Aganglionic Megacolon in the TashT Mouse Line Due to Perturbation of Silencer Elements in a Large Gene Desert of Chromosome 10
Neural crest cells (NCC) are a transient migratory cell population that generates diverse cell types such as neurons and glia of the enteric nervous system (ENS). Via an insertional mutation screen for loci affecting NCC development in mice, we identified one line-named TashT-that displays a partially penetrant aganglionic megacolon phenotype in a strong male-biased manner. Interestingly, this ...
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The trisomy of the short arm of chromosome 10 is a rare condition. The phenotypic expression of this genetic aberration is characterised by growth and mental retardation with several neurological signs. We report the neurophysiological findings in a newborn affected by 10p chromosome trisomy who developed seizures. Serial EEGs showed a progressive reduction in burst-suppression activity and a s...
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Ring chromosomes are rare chromosomal disorders that usually appear to occur de novo. A ring chromosome forms when due to deletion both ends of chromosome fuse with each other. Depending on the amount of chromosomal deletion, the clinical manifestations may be different. So, ring 18 syndrome is characterized by severe mental growth retardation as well as microcephaly, brain and ocular malformat...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1994
ISSN: 1468-6244
DOI: 10.1136/jmg.31.10.804