Abstract
Background: Interstitial 6q deletions, involving the 6q15q25 chromosomal region, are rare events characterized by variable phenotypes and no clear karyotype/phenotype correlation has been determined yet. Results: We present a child with a 6q21q22.1 deletion, characterized by array-CGH, associated with developmental delay, intellectual disability, microcephaly, facial dysmorphisms, skeletal, muscle, and brain anomalies. Discussion: In our patient, the 6q21q22.1 deleted region contains ten genes (TRAF3IP2, FYN, WISP3, TUBE1, LAMA4, MARCKS, HDAC2, HS3ST5, FRK, COL10A1) and two desert gene regions. We discuss here if these genes had some role in determining the phenotype of our patient in order to establish a possible karyotype/phenotype correlation.
| Original language | English |
|---|---|
| Article number | 31 |
| Journal | Molecular Cytogenetics |
| Volume | 8 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Apr 28 2015 |
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Keywords
- 6q21q22.1
- Array-CGH
- Interstitial deletion
- Karyotype/phenotype correlation
- Poland syndrome
ASJC Scopus subject areas
- Genetics
- Molecular Biology
- Genetics(clinical)
- Biochemistry
- Molecular Medicine
- Biochemistry, medical
Cite this
Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion. / Tassano, Elisa; Mirabelli-Badenier, Marisol; Veneselli, Edvige; Puliti, Aldamaria; Lerone, Margherita; Vaccari, Carlotta Maria; Morana, Giovanni; Porta, Simona; Gimelli, Giorgio; Cuoco, Cristina.
In: Molecular Cytogenetics, Vol. 8, No. 1, 31, 28.04.2015.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion
AU - Tassano, Elisa
AU - Mirabelli-Badenier, Marisol
AU - Veneselli, Edvige
AU - Puliti, Aldamaria
AU - Lerone, Margherita
AU - Vaccari, Carlotta Maria
AU - Morana, Giovanni
AU - Porta, Simona
AU - Gimelli, Giorgio
AU - Cuoco, Cristina
PY - 2015/4/28
Y1 - 2015/4/28
N2 - Background: Interstitial 6q deletions, involving the 6q15q25 chromosomal region, are rare events characterized by variable phenotypes and no clear karyotype/phenotype correlation has been determined yet. Results: We present a child with a 6q21q22.1 deletion, characterized by array-CGH, associated with developmental delay, intellectual disability, microcephaly, facial dysmorphisms, skeletal, muscle, and brain anomalies. Discussion: In our patient, the 6q21q22.1 deleted region contains ten genes (TRAF3IP2, FYN, WISP3, TUBE1, LAMA4, MARCKS, HDAC2, HS3ST5, FRK, COL10A1) and two desert gene regions. We discuss here if these genes had some role in determining the phenotype of our patient in order to establish a possible karyotype/phenotype correlation.
AB - Background: Interstitial 6q deletions, involving the 6q15q25 chromosomal region, are rare events characterized by variable phenotypes and no clear karyotype/phenotype correlation has been determined yet. Results: We present a child with a 6q21q22.1 deletion, characterized by array-CGH, associated with developmental delay, intellectual disability, microcephaly, facial dysmorphisms, skeletal, muscle, and brain anomalies. Discussion: In our patient, the 6q21q22.1 deleted region contains ten genes (TRAF3IP2, FYN, WISP3, TUBE1, LAMA4, MARCKS, HDAC2, HS3ST5, FRK, COL10A1) and two desert gene regions. We discuss here if these genes had some role in determining the phenotype of our patient in order to establish a possible karyotype/phenotype correlation.
KW - 6q21q22.1
KW - Array-CGH
KW - Interstitial deletion
KW - Karyotype/phenotype correlation
KW - Poland syndrome
UR - http://www.scopus.com/inward/record.url?scp=84930674123&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84930674123&partnerID=8YFLogxK
U2 - 10.1186/s13039-015-0134-7
DO - 10.1186/s13039-015-0134-7
M3 - Article
AN - SCOPUS:84930674123
VL - 8
JO - Molecular Cytogenetics
JF - Molecular Cytogenetics
SN - 1755-8166
IS - 1
M1 - 31
ER -