Telomere-telomere (end to end) fusion of chromosomes 7 and 22 with an interstitial deletion of chromosome 7p11.2--p15.1: phenotypic consequences and possible mechanisms

Autor:	S M, Zneimer, P D, Cotter, S D, Stewart
Rok vydání:	2000
Předmět:	Adult Male Chromosomes Human Pair 22 Infant Syndrome Telomere Artificial Gene Fusion Phenotype Karyotyping Humans Abnormalities Multiple Female Chromosome Deletion Chromosomes Human Pair 7 In Situ Hybridization Fluorescence
Zdroj:	Clinical genetics. 58(2)
ISSN:	0009-9163
Popis:	We report a rare case of a de novo end to end fusion of chromosomes 7 and 22 in conjunction with an interstitial deletion of chromosome 7p11.2p15.1 in a newborn with congenital anomalies. The proband presented for chromosome analysis with bilateral cataracts, dysmorphic facies and distal limb abnormalities. Chromosome analysis showed a 45,XY,der(22)psu dic(22;7)(p13;p22.3)del(7)(p11.2p15.1) karyotype. This short arm to short arm fusion of chromosomes 7 and 22 resulted in a pseudodicentric chromosome. The interstitial deletion in the short arm of chromosome 7 was likely a result of breakage and reunion related to instability of the dicentric chromosome. Loss of genetic material in this region of chromosome 7p has been implicated in the pathophysiology of craniosynostosis and cephalopolysyndactyly syndromes.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::9b4b3dc91bfabb927a60b3ce9a21aa96 https://pubmed.ncbi.nlm.nih.gov/11005146 Zobrazit plný text záznamu Plný text