A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization

Abstract: Viene presentato uno studio in cui un caso di monosomia 21, diagnosticata con fluorescenza in ibridazione, ha presentato anomalie in altre componenti cromosomiche e caratteristiche proprie di altre sindromi come la 5p (cri-du-chat). Il manifestarsi di casi analoghi potrebbe giustificare l'individuazione di una nuova sindrome del cromosoma 21q.

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Description	A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization / Flaherty, Laurie; Moloney, Joseph; Watson, Neville; Robson, Lisa; Bousfield, L.; Smith, Arabella. - JIDR Journal of Intellectual Disability Research, 1999, 42, 3 ; pp. 254-258
	[Is part of] JIDR Journal of Intellectual Disability Research : The Foremost International Journal on Intellectual Disability / Oliver, Chris 1998, 42, 3 ; pp. 254-258
Numbers	ISSN: 0964-2633
Authors	Bousfield, L. - [Author] Moloney, Joseph - [Author] Robson, Lisa - [Author] Smith, Arabella - [Author] Watson, Neville - [Author] Flaherty, Laurie - [Main author] - [Author]
Publishing location	Oxford
Editor	Blackwell Scientific Publications - [Editor/publisher]
Custom lists	Tag Età - Infanzia / Childhood Malattia - Deficit Neurologico / Neurological Impairment Medicina - Clinico-Sanitario / Clinical-Healthcare Medicina - Genetica - Genetica / Genetic Medicina - Processi - Diagnosi / Diagnosis Medicina - Professioni - Medico-Dottore / Physician-Doctor Medicina - Salute / Health Medicina - Sindromi - Sindrome / Syndrome Ricerca / Research
Language	English
ID file	5277
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