2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis
Annals of Pediatric Endocrinology & Metabolism
; : 129-132, 2017.
Article
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| ID: wpr-45447
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WPRO
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.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Paralysie
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Nerfs périphériques
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Phénotype
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Hormone de croissance
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Orteils
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Cardiomyopathie dilatée
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Maladies chromosomiques
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Analyse cytogénétique
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Cytogénétique
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Désoxycytidine monophosphate
Type d'étude:
Diagnostic_studies
Limites du sujet:
Humans
langue:
En
Texte intégral:
Annals of Pediatric Endocrinology & Metabolism
Année:
2017
Type:
Article