Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion

Elisa Tassano; Marisol Mirabelli-Badenier; Edvige Veneselli; Aldamaria Puliti; Margherita Lerone; Carlotta Maria Vaccari; Giovanni Morana; Simona Porta; Giorgio Gimelli; Cristina Cuoco

doi:10.1186/s13039-015-0134-7

Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion

Elisa Tassano, Marisol Mirabelli-Badenier, Edvige Veneselli, Aldamaria Puliti, Margherita Lerone, Carlotta Maria Vaccari, Giovanni Morana, Simona Porta, Giorgio Gimelli, Cristina Cuoco

Istituto "Giannina Gaslini"

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

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	https://doi.org/10.1186/s13039-015-0134-7
Publication status	Published - Apr 28 2015

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

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10.1186/s13039-015-0134-7

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title = "Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion",

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.",

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author = "Elisa Tassano and Marisol Mirabelli-Badenier and Edvige Veneselli and Aldamaria Puliti and Margherita Lerone and Vaccari, {Carlotta Maria} and Giovanni Morana and Simona Porta and Giorgio Gimelli and Cristina Cuoco",

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doi = "10.1186/s13039-015-0134-7",

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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

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Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion

Abstract

Keywords

ASJC Scopus subject areas

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