Insights into 6q21-q22: Refinement of the critical region for acro-cardio-facial syndrome

Donatella Milani; Giulia Anna Cagnoli; Marco Baccarin; Enrico Alfei; Silvana Guerneri; Susanna Esposito

doi:10.1111/cga.12164

Insights into 6q21-q22: Refinement of the critical region for acro-cardio-facial syndrome

Donatella Milani, Giulia Anna Cagnoli, Marco Baccarin, Enrico Alfei, Silvana Guerneri, Susanna Esposito

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	187-189
Number of pages	3
Journal	Congenital Anomalies
Volume	56
Issue number	4
DOIs	https://doi.org/10.1111/cga.12164
Publication status	Published - Jul 1 2016

Keywords

6q21-q22 deletion
acro-cardio-facial syndrome
chromosome 6
epilepsy
NUS1

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Embryology
Developmental Biology

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10.1111/cga.12164

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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.",

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T2 - Refinement of the critical region for acro-cardio-facial syndrome

AU - Milani, Donatella

AU - Cagnoli, Giulia Anna

AU - Baccarin, Marco

AU - Alfei, Enrico

AU - Guerneri, Silvana

AU - Esposito, Susanna

PY - 2016/7/1

Y1 - 2016/7/1

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AB - 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.

KW - 6q21-q22 deletion

KW - acro-cardio-facial syndrome

KW - chromosome 6

KW - epilepsy

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Insights into 6q21-q22: Refinement of the critical region for acro-cardio-facial syndrome

Abstract

Keywords

ASJC Scopus subject areas

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