Deletions on chromosome 6q are rarely reported in the literature, and genotype-phenotype correlations are poorly understood. We report a child with a deletion of the 6q21-q22 chromosomal region, providing some intriguing results about the correlation between this region and acro-cardio-facial syndrome, congenital heart disease, split hand and foot malformation, and epilepsy.
Insights into 6q21-q22 : Refinement of the critical region for acro-cardio-facial syndrome / D. Milani, G.A. Cagnoli, M. Baccarin, E. Alfei, S. Guerneri, S. Esposito. - In: CONGENITAL ANOMALIES. - ISSN 0914-3505. - 56:4(2016 Jul), pp. 187-189. [10.1111/cga.12164]
Insights into 6q21-q22 : Refinement of the critical region for acro-cardio-facial syndrome
D. MilaniPrimo
;M. Baccarin;S. EspositoUltimo
2016
Abstract
Deletions on chromosome 6q are rarely reported in the literature, and genotype-phenotype correlations are poorly understood. We report a child with a deletion of the 6q21-q22 chromosomal region, providing some intriguing results about the correlation between this region and acro-cardio-facial syndrome, congenital heart disease, split hand and foot malformation, and epilepsy.File | Dimensione | Formato | |
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Milani_et_al-2016- 6q21 acrocardiofacial Congenital_Anomalies 2016.pdf
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