Novel CHD7 and FBN1 mutations in an infant with multiple congenital anamolies.
Indian J Pediatr
; 2010 Feb; 77(2): 208-209
Article
ي En
| IMSEAR
| ID: sea-142505
ABSTRACT
The first case of an infant with a dual genetic diagnosis of CHARGE and Marfan syndrome is reported here. The patient had multiple congenital anamolies, many of them consistent with CHARGE syndrome and genetic testing identified a heterozygous mutation c.3806_11del6insA in the CHD7 gene. In addition, his father had physical features consistent with Marfan syndrome. Fibrillin-1 (FBN1) mutation screening identified a heterozygous c.3990insC mutation in both father and the patient.
Key words
النص الكامل:
1
الفهرس:
IMSEAR
الموضوع الرئيسي:
Spinal Diseases
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Syndrome
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Abnormalities, Multiple
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Humans
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Male
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Infant, Newborn
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Vestibular Diseases
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Central Nervous System Diseases
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Coloboma
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Choanal Atresia
اللغة:
En
مجلة:
Indian J Pediatr
السنة:
2010
نوع:
Article