In the literature, two cases of partial monosomy 13 have been reported in adenomatous goiters, suggesting that this abnormality characterizes a rare but distinct subgroup of benign thyroid lesions histologically presenting as adenomatous goiters. [ncbi.nlm.nih.gov]

23661454 ) Su P.H....Chen J.Y. 2013 12 Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients. ( 27625853 ) Abdallah-Bouhjar I.B....Elghezal H. 2013 13 Monosomy and ring chromosome 13 in a thyroid nodular goiter-do [malacards.org]

Strube OUP USA, ٢٧‏/٠٩‏/٢٠١٢ - 1386 من الصفحات For over the past ten years Pediatric Ophthalmology and Strabismus has become the leading textbook in the specialty of pediatric ophthalmology and strabismus. [books.google.com]

CrossRef Google Scholar —: Evidence for sister-strand crossing-over in maize. Genetics 38, 251–260 (1953). PubMed PubMedCentral Google Scholar Schwartz, D. : Studies on the mechanism of crossing-over. Genetics 39, 692–700 (1954). [springerlink.com]

Deletions• May arise through unequal crossing over A B C D E F G x A B C D E F G A B C D E G A B C D E F F G Deletion Duplication 19. INSERTION 27 20. Insertion 28 21. Insertion& Duplication 29 22. INVERSION 30 23. [slideshare.net]

I have had so much fun designing and making wheelchair-costume kits for kids all over the country.” 3. Rock lobster Jenna Stoddard, 8, in her lobster costume. [today.com]

Save over 20% compared to the individual article price. [karger.com]

Tetrasomy 13q32.2qter due to an apparent inverted duplicated neocentric marker chromosome in an infant with hemangiomas, failure to thrive, laryngomalacia, and tethered cord. Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):812-815. [ssmc-tl.com]

Over the years, Avery has also had additional diagnosis' of microcephaly (small head), Cerebral Palsy (due to areas of low and high tone in her muscles), failure to thrive (due to weight loss at 1 year of age), Partial Seizures (controlled by medication [chromosome13deletion.com]

Without treatment babies develop chest infections and often have very serious failure to thrive. Early institution of treatment greatly improves the health of babies with CF. [embryology.med.unsw.edu.au]

They showed a phenotype consistent with the “ring syndrome” with failure to thrive, minor dysmporphic features and no major anomalies. [tp.amegroups.com]

[…] thumbs * Hypoplastic thumbs * Big toes * Fused toes * Pes calcaneovalgus * Fusion of metacarpal bones * Brachydactyly * Syndactyly * Polydactyly * Oligodactyly * Clubfoot * Simian creases * Vertebral malformations * Pigmentation disorders * Alopecia [checkorphan.org]

However, the hearing loss and speech delay that were found in our three patients have rarely been reported with ring chromosome 13. [content.iospress.com]

Abstract A five-year-old boy with psychomotor retardation, microcephaly, bilateral cataracts, hearing impairment and hypospadia with microphallus was found to have multiple cell lines from peripheral blood: 46,XY/46,XY, -13, r(13)/46, Xy, -13, dic r(13 [ncbi.nlm.nih.gov]

Microscopic examination showed a detached retina with reactive gliosis and neovascularisation. [ncbi.nlm.nih.gov]

Magnetic resonance scan of the brain showed periventricular white matter and left cortical-subcortical regional alterations, suggesting degenerative changes such as gliosis, leucoenceph- alopathy, or myelinisation delay, as well as lateral ventricular [easap.asia]