An extra idic(21)(q22.1) in a child with some features of Down’s syndrome

Gutiérrez Angulo, Melva; Ramos, Al; Dávalos, Nory O.; Sánchez Corona, José; Rivera, Horacio

Por favor, use este identificador para citar o enlazar este ítem: https://hdl.handle.net/20.500.12104/72519

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Campo DC	Valor	Lengua/Idioma
dc.creator	Gutiérrez Angulo, Melva	-
dc.creator	Ramos, Al	-
dc.creator	Dávalos, Nory O.	-
dc.creator	Sánchez Corona, José	-
dc.creator	Rivera, Horacio	-
dc.date	2015-06-25T16:09:04Z	-
dc.date	2015-06-25T16:09:04Z	-
dc.date	1999-03	-
dc.date.accessioned	2019-04-07T23:47:44Z	-
dc.date.available	2019-04-07T23:47:44Z	-
dc.identifier	Gutiérrez-Angulo, M., Ramos, A., Dávalos, N., Sánchez-Corona, J. and Rivera, H. (1999), An extra idic(21)(q22.1) in a child with some features of Down’s syndrome. Clinical Genetics, 55: 203–206. doi: 10.1034/j.1399-0004.1999.550309.x	-
dc.identifier	0009-9163	-
dc.identifier	http://repositorio.cualtos.udg.mx:8080/jspui/handle/123456789/313	-
dc.identifier.uri	https://hdl.handle.net/20.500.12104/72519	-
dc.description	A 30-month-old boy with mental retardation, hypotonia, joint hyperlaxity, Brushfield spots, open mouth, distal axial triradius t′′, and ulnar loops on both forefingers was found to have a 47,XY,+psu idic(21)(q22.1).ish psu idic(21)(q22.1)(D13Z1/D21Z1++,ETS2−) karyotype. The patient’s phenotype, with only some Down’s syndrome (DS) features, is probably related to his disomy for most or all of the critical region 21q22.2[RIGHTWARDS ARROW]q22.3 and agrees with the current notion that certain DS features may also result from 21q proximal duplications. The phenotypical comparison with 2 other patients with a similar extra idic(21) reveals some discrepancies, which may be related to the inherent clinical variability of similar imbalances; yet, a real difference between the tetrasomic segments cannot be excluded. Noticeably, all 3 patients with 21q proximal tetrasomy did not have cardiac defect and exhibited none or just one out of the five other DS phenotypic features attributed to a single gene or cluster on distal 21q22.	-
dc.description	Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.	-
dc.language	en	-
dc.publisher	Clinical Genetics	-
dc.relation	Clinical Genetics;Volume 55, Issue 3, pages 203–206.	-
dc.subject	Down’s syndrome	-
dc.subject	karyotype–phenotype correlation	-
dc.subject	21q proximal tetrasomy	-
dc.title	An extra idic(21)(q22.1) in a child with some features of Down’s syndrome	-
dc.title	Short report	-
dc.type	Article	-
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