WebMar 1, 2012 · 4. Discussion. We report on a case combining duplication and deletion of 2q and 4q, respectively. The proband, a boy, carries a 32.9 Mb duplication of 2q34-q37.3 and a 13.5 Mb deletion, spanning from 4q34.2 to 4q35.2. 2q3 duplication syndrome patients show variable developmental delays, facial and visceral anomalies. WebDuplications of 4q represent rare chromosomal abnormalities, which usually result from an unbalanced segregation of a familial translocation and lead to a variety of congenital anomalies. [11] The common clinical features of pure 4q duplication are summarized to further investigate the genotype–phenotype correlation in Table 1. [1,3,11–17] Table 1
Chromosomal Deletion Syndromes - Pediatrics - Merck Manuals ...
WebChromosome 4q Deletion Syndrome is a rare chromosomal disorder where a portion of the 4th chromosome long arm (4q) is deleted. This can occur either in the middle of the chromosome arm (“interstitial”) or at the end (“terminal”), and have varying effects. The severity of phenotypic/clinical characteristics depends upon the site of ... WebChromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The … frank\u0027s golf clubs
Partial duplication of the long arm of chromosome 4
WebOct 6, 2024 · Partial duplication of chromosome 4q. 6 October 2024. Post navigation. Previous post. Partial duplication of chromosome 1q. Next post. Partial duplication of … WebSep 30, 2024 · Chromosome Xq Duplication Syndrome is a rare chromosomal disorder caused by the presence of an extra copy of a small piece of chromosome X (on the long … WebAbout Chromosome 14q duplication. Many rare diseases have limited information. Currently GARD aims to provide the following information for this disease: Population … frank\u0027s great outdoors coupon