Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy

Autor:	J E, Pellegrino, L, Pellegrino, N B, Spinner, J, Sladky, P F, Chance, E H, Zackai
Rok vydání:	1996
Předmět:	Adult Male Cytogenetics Monosomy Charcot-Marie-Tooth Disease Chromosomes Human Pair 10 Child Preschool Developmental Disabilities Humans Abnormalities Multiple Female Chromosomes Human Pair 17
Zdroj:	American journal of medical genetics. 61(4)
ISSN:	0148-7299
Popis:	We report on a patient with dup(17p) and monosomy (10q) resulting from a familial translocation. Manifestations typical of both syndromes were present. The overall development of this patient was better by comparison with similar reported cases of either anomaly. Our evaluation detected severe gross motor delay and signs of a demyelinating peripheral neuropathy. This patient is trisomic for the region of 17p which includes the peripheral myelin protein-22 (PMP-22) gene, known to be duplicated in Charcot-Marie-Tooth neuropathy type 1A (CMT1A). Our analysis in this patient suggests that trisomy for the PMP-22 gene led to the demyelinating neuropathy and contributed to his severe motor developmental delay.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::14edee52949863614abd260a19695af7 https://pubmed.ncbi.nlm.nih.gov/8834051 Zobrazit plný text záznamu Plný text