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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

The patient (left, post-operative) and the patient's monozygotic twin sister (right). Neither of them has any distinct facial abnormalities.
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f1-mmr-12-04-5655: The patient (left, post-operative) and the patient's monozygotic twin sister (right). Neither of them has any distinct facial abnormalities.

Mentions: In 2011, a female patient (age, four years and eight months) from Central-South China was seen at the Second Xiangya Hospital of Central South University for a heart murmur. The parents of the patient were unrelated and no family history of inherited diseases was present. At birth, the patient presented with lip cyanosis, clubbing and heart defects (tetralogy of fallot, patent duct artery and patent foramen ovale). At the last examination (at the age of four years and eight months), the patient had a height of 75 cm and a weight of 10 kg. A moderate mental impairment and a decreased ability were observed, and her intelligence quotient was 65 compared to 80 at two years of age. The patient did not present with any distinct facial abnormalities (Fig. 1). The monozygotic twin sister of the patient, however, was physically and psychologically normal.


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)

The patient (left, post-operative) and the patient's monozygotic twin sister (right). Neither of them has any distinct facial abnormalities.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

f1-mmr-12-04-5655: The patient (left, post-operative) and the patient's monozygotic twin sister (right). Neither of them has any distinct facial abnormalities.
Mentions: In 2011, a female patient (age, four years and eight months) from Central-South China was seen at the Second Xiangya Hospital of Central South University for a heart murmur. The parents of the patient were unrelated and no family history of inherited diseases was present. At birth, the patient presented with lip cyanosis, clubbing and heart defects (tetralogy of fallot, patent duct artery and patent foramen ovale). At the last examination (at the age of four years and eight months), the patient had a height of 75 cm and a weight of 10 kg. A moderate mental impairment and a decreased ability were observed, and her intelligence quotient was 65 compared to 80 at two years of age. The patient did not present with any distinct facial abnormalities (Fig. 1). The monozygotic twin sister of the patient, however, was physically and psychologically normal.

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