Ann Pediatr Endocrinol Metab.  2017 Jun;22(2):129-132. 10.6065/apem.2017.22.2.129.

2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis

• Cho EK
• Kim J
• Yang A
• Cho SY
• Jin DK

• KMID: 2383909
• DOI: http://doi.org/10.6065/apem.2017.22.2.129

Abstract

Chromosome 2q37 deletion syndrome is a rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits or toes, short stature, obesity, hypotonia, a characteristic facial appearance, and autism spectrum disorder. Here, we report on a patient with 2q37 deletion presenting with dilated cardiomyopathy (DCMP). Congenital heart malformations have been noted in up to 20% of patients with 2q37 deletions. However, DCMP has not been reported in 2q37 deletion patients previously. The patient exhibited the characteristic facial appearance (a flat nasal bridge, deep-set eyes, arched eyebrows, and a thin upper lip), developmental delay, mild mental retardation, peripheral nerve palsy, and Albright hereditary osteodystrophy (AHO)-like phenotypes (short stature and brachydactyly). Conventional chromosomal analysis results were normal; however, microarray-based comparative genomic hybridization revealed terminal deletion at 2q37.1q37.3. In addition, the patient was confirmed to have partial growth hormone (GH) deficiency and had shown a significant increase in growth rate after substitutive GH therapy. Chromosome 2q37 deletion syndrome should be considered in the differential diagnosis of patients presenting with AHO features, especially in the presence of facial dysmorphism. When patients are suspected of having a 2q37 deletion, high-resolution cytogenetic analysis is recommended.

Keyword

Chromosome 2q37 deletion syndrome; Albright's hereditary osteodystrophy; Brachydactyly; Dilated cardiomyopathy; Array based comparative genomic hybridization

MeSH Terms

Autism Spectrum Disorder
Brachydactyly
Cardiomyopathy, Dilated
Chromosome Disorders
Comparative Genomic Hybridization
Cytogenetic Analysis*
Cytogenetics*
Deoxycytidine Monophosphate
Diagnosis, Differential
Eyebrows
Growth Hormone
Heart
Humans
Intellectual Disability
Muscle Hypotonia
Obesity
Paralysis
Peripheral Nerves
Phenotype
Toes
Deoxycytidine Monophosphate
Growth Hormone

Figure

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  Fig. 1 Two-dimensional echocardiography at diagnosis showing dilated cardiomyopathy. Note the extremely dilated left ventricle. The left ventricular end-diastolic dimension was 5.9 cm, and the ejection fraction was 26%. LV, left ventricle ; RV, right ventricle ; LA, left atrium ; RA, right atrium.

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  Fig. 2 Patient's growth chart. In the figure, height measurements from 7 years to 10.8 years are reported. Growth hormone (GH) therapy was started at 10 years of age (arrow) and led to a significant growth velocity increase, as shown in the figure.

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  Fig. 3 Plain radiographs of feet (A) and hands (B) at 7 years of age, showing shortening of the third, fourth, and fifth metatarsals and metacarpals.

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  Fig. 4 Results of array-comparative genomic hybridization. (A) The patient showed loss of 2q37.1q37.3. The patient's father (B) and mother (C) showed normal chromosomes.

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