We describe a female child with complex cytogenetic anomalies consisting in partial trisomy of the short arm of chromosome 10, terminal deletion of the long arm of chromosome 2 and--at the same time--a mosaicism for X monosomy. To our knowledge, this is the first case reported in which 10p trisomy is associated to a 2qter deletion. Due to the scarcity of cases reported with pure trisomy, it has not been possible to define the 10p+ syndrome precisely yet. Comparison of our proband's phenotype to both the 2q37 deletion and 10p trisomy showed more features described in 2q37- subjects than in 10p+ ones. We also discuss the difficulties of genetic counseling in children with complex aberrations.

46,XX,der(2)(2pter->2q37::10p13->10pter)[127]/45,X,der(2)t(2;10)(2pter->2q37: :10p13->10pter)[23]. Karyotype-phenotype correlation and genetic counselling in complex karyotype / Grammatico, Paola; Majore, S; Marrocco, G; Poscente, M; Mordenti, C; Grammatico, B; DEL PORTO, Giuseppe. - In: GENETIC COUNSELING. - ISSN 1015-8146. - STAMPA. - 10(4):(1999), pp. 351-358.

46,XX,der(2)(2pter->2q37::10p13->10pter)[127]/45,X,der(2)t(2;10)(2pter->2q37: :10p13->10pter)[23]. Karyotype-phenotype correlation and genetic counselling in complex karyotype.

GRAMMATICO, Paola;DEL PORTO, Giuseppe
1999

Abstract

We describe a female child with complex cytogenetic anomalies consisting in partial trisomy of the short arm of chromosome 10, terminal deletion of the long arm of chromosome 2 and--at the same time--a mosaicism for X monosomy. To our knowledge, this is the first case reported in which 10p trisomy is associated to a 2qter deletion. Due to the scarcity of cases reported with pure trisomy, it has not been possible to define the 10p+ syndrome precisely yet. Comparison of our proband's phenotype to both the 2q37 deletion and 10p trisomy showed more features described in 2q37- subjects than in 10p+ ones. We also discuss the difficulties of genetic counseling in children with complex aberrations.
1999
01 Pubblicazione su rivista::01a Articolo in rivista
46,XX,der(2)(2pter->2q37::10p13->10pter)[127]/45,X,der(2)t(2;10)(2pter->2q37: :10p13->10pter)[23]. Karyotype-phenotype correlation and genetic counselling in complex karyotype / Grammatico, Paola; Majore, S; Marrocco, G; Poscente, M; Mordenti, C; Grammatico, B; DEL PORTO, Giuseppe. - In: GENETIC COUNSELING. - ISSN 1015-8146. - STAMPA. - 10(4):(1999), pp. 351-358.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/117537
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