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 | |
| Publication status | Published - Jul 1 2016 |
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Keywords
- 6q21-q22 deletion
- acro-cardio-facial syndrome
- chromosome 6
- epilepsy
- NUS1
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Embryology
- Developmental Biology
Cite this
Insights into 6q21-q22 : Refinement of the critical region for acro-cardio-facial syndrome. / Milani, Donatella; Cagnoli, Giulia Anna; Baccarin, Marco; Alfei, Enrico; Guerneri, Silvana; Esposito, Susanna.
In: Congenital Anomalies, Vol. 56, No. 4, 01.07.2016, p. 187-189.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Insights into 6q21-q22
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
N2 - 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.
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
KW - NUS1
UR - http://www.scopus.com/inward/record.url?scp=84990223445&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84990223445&partnerID=8YFLogxK
U2 - 10.1111/cga.12164
DO - 10.1111/cga.12164
M3 - Article
VL - 56
SP - 187
EP - 189
JO - Congenital Anomalies
JF - Congenital Anomalies
SN - 0914-3505
IS - 4
ER -