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1q21.1 microduplication in a patient with mental impairment and congenital heart defect.

Sun G, Tan Z, Fan L, Wang J, Yang Y, Zhang W - Mol Med Rep (2015)

Bottom Line: This chromosome region contained HFE2, a critical gene involved in hereditary hemochromatosis.However, the parents and monozygotic twin sister of the patient did not carry this genomic lesion.To the best of our knowledge, the present study was the first to report on a 1q21.1 duplication patient in mainland China.

View Article: PubMed Central - PubMed

Affiliation: Department of Cardiothoracic Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, P.R. China.

ABSTRACT
1q21.1 duplication is a rare copy number variant with multiple congenital malformations, including developmental delay, autism spectrum disorder, dysmorphic features and congenital heart anomalies. The present study described a Chinese female patient (age, four years and eight months) with multiple malformations, including congenital heart defect, mental impairment and developmental delay. The parents and the monozygotic twin sister of the patient, however, were physically and psychologically normal. High‑resolution genome‑wide single nucleotide polymorphism array revealed a 1.6‑Mb duplication in chromosome region 1q21.1. This chromosome region contained HFE2, a critical gene involved in hereditary hemochromatosis. However, the parents and monozygotic twin sister of the patient did not carry this genomic lesion. To the best of our knowledge, the present study was the first to report on a 1q21.1 duplication patient in mainland China.

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Related in: MedlinePlus

Human 660w-Quad SNP array results of 1q21.1 duplication in the proband. The above panel shows the region involved in cytogenetic bands 1q21.1. A de novo 1.6-Mb duplication on chromosome 1q21.1 (chromosome 1:144972830-146608260) was identified (UCSC Genome Browser on Human GRCh37/hg19 Assembly). The lower panel shows the key annotated genes.
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f2-mmr-12-04-5655: Human 660w-Quad SNP array results of 1q21.1 duplication in the proband. The above panel shows the region involved in cytogenetic bands 1q21.1. A de novo 1.6-Mb duplication on chromosome 1q21.1 (chromosome 1:144972830-146608260) was identified (UCSC Genome Browser on Human GRCh37/hg19 Assembly). The lower panel shows the key annotated genes.

Mentions: The chromosome analysis of the patient revealed a normal female karyotype, described as 46,XX. The twin sister and parents also had a normal karyotype. STR-PCR analysis confirmed that the patient and her sister are identical twins (Table I). Clinical examination of the patient showed a combination of phenotypes with CHD, developmental delay, mental impairment, neuropsychiatric abnormalities, raising concerns about a chromosomal abnormality of microdeletion/microduplication. To explore the exact genomic lesion of this patient, the SNP array system (Human660w-Quad Chip, Beadstation Scanner and BeadStudio 3.3.7 software) was employed to analyze the whole genome copy number variations. Comparison with the Database of Genomic Variants (http://dgv.tcag.ca/dgv/app/home) showed a de novo 1.6-Mb duplication at chromosome 1q21.1 (chromosome 1:144972830-146608260) (National Center of Biotechnology Information build 37/Hg19). This chromosomal region contains ~30 annotated genes, including HFE2, HYDIN2, RBM8A and CD160 (Fig. 2). The identical twin sister and parents did not carry this genomic lesion.


1q21.1 microduplication in a patient with mental impairment and congenital heart defect.

Sun G, Tan Z, Fan L, Wang J, Yang Y, Zhang W - Mol Med Rep (2015)

Human 660w-Quad SNP array results of 1q21.1 duplication in the proband. The above panel shows the region involved in cytogenetic bands 1q21.1. A de novo 1.6-Mb duplication on chromosome 1q21.1 (chromosome 1:144972830-146608260) was identified (UCSC Genome Browser on Human GRCh37/hg19 Assembly). The lower panel shows the key annotated genes.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4581767&req=5

f2-mmr-12-04-5655: Human 660w-Quad SNP array results of 1q21.1 duplication in the proband. The above panel shows the region involved in cytogenetic bands 1q21.1. A de novo 1.6-Mb duplication on chromosome 1q21.1 (chromosome 1:144972830-146608260) was identified (UCSC Genome Browser on Human GRCh37/hg19 Assembly). The lower panel shows the key annotated genes.
Mentions: The chromosome analysis of the patient revealed a normal female karyotype, described as 46,XX. The twin sister and parents also had a normal karyotype. STR-PCR analysis confirmed that the patient and her sister are identical twins (Table I). Clinical examination of the patient showed a combination of phenotypes with CHD, developmental delay, mental impairment, neuropsychiatric abnormalities, raising concerns about a chromosomal abnormality of microdeletion/microduplication. To explore the exact genomic lesion of this patient, the SNP array system (Human660w-Quad Chip, Beadstation Scanner and BeadStudio 3.3.7 software) was employed to analyze the whole genome copy number variations. Comparison with the Database of Genomic Variants (http://dgv.tcag.ca/dgv/app/home) showed a de novo 1.6-Mb duplication at chromosome 1q21.1 (chromosome 1:144972830-146608260) (National Center of Biotechnology Information build 37/Hg19). This chromosomal region contains ~30 annotated genes, including HFE2, HYDIN2, RBM8A and CD160 (Fig. 2). The identical twin sister and parents did not carry this genomic lesion.

Bottom Line: This chromosome region contained HFE2, a critical gene involved in hereditary hemochromatosis.However, the parents and monozygotic twin sister of the patient did not carry this genomic lesion.To the best of our knowledge, the present study was the first to report on a 1q21.1 duplication patient in mainland China.

View Article: PubMed Central - PubMed

Affiliation: Department of Cardiothoracic Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, P.R. China.

ABSTRACT
1q21.1 duplication is a rare copy number variant with multiple congenital malformations, including developmental delay, autism spectrum disorder, dysmorphic features and congenital heart anomalies. The present study described a Chinese female patient (age, four years and eight months) with multiple malformations, including congenital heart defect, mental impairment and developmental delay. The parents and the monozygotic twin sister of the patient, however, were physically and psychologically normal. High‑resolution genome‑wide single nucleotide polymorphism array revealed a 1.6‑Mb duplication in chromosome region 1q21.1. This chromosome region contained HFE2, a critical gene involved in hereditary hemochromatosis. However, the parents and monozygotic twin sister of the patient did not carry this genomic lesion. To the best of our knowledge, the present study was the first to report on a 1q21.1 duplication patient in mainland China.

Show MeSH
Related in: MedlinePlus