Chromosome 10q Deletion del (10)(q26.1q26.3) is Associated with Cataract

Distal 10q deletion syndrome is an uncommon chromosomal disorder. Interstitial deletion involving bands 10q25–10q26.1 is extremely rare and few cases have been reported. The characteristic features are facial dysmorphisms, postnatal growth retardation, developmental delay, congenital heart disease,...

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Published inPediatrics and neonatology Vol. 54; no. 2; pp. 132 - 136
Main Authors Chang, Yu-Tzu, Chou, I-Ching, Wang, Chung-Hsing, Chin, Zheng-Nan, Kuo, Huang-Tsung, Lin, Chyi-Chyang, Tsai, Chang-Hai, Tsai, Fuu-Jen
Format Journal Article
LanguageEnglish
Published Amsterdam Elsevier B.V 01.04.2013
Elsevier
Subjects
Biological and medical sciences
cataract
Cataract - genetics
Cataracts
Child
chromosome 10
Chromosome Deletion
Chromosomes, Human, Pair 10
Female
General aspects
Humans
Internal Medicine
interstitial deletion
Lens diseases
Medical sciences
Ophthalmology
Pediatrics
cataract
chromosome 10
interstitial deletion
Pediatrics
Eye disease
Cataract
Lens disease
Deletion
Tropical medicine
Anterior segment disease
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Summary:Distal 10q deletion syndrome is an uncommon chromosomal disorder. Interstitial deletion involving bands 10q25–10q26.1 is extremely rare and few cases have been reported. The characteristic features are facial dysmorphisms, postnatal growth retardation, developmental delay, congenital heart disease, genitourinary anomalies, digital anomalies, and strabismus. We report for the first time a patient with de novo 10q interstitial deletion del (10)(q26.1q26.3) and cataract.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-1
content type line 23
ISSN:1875-9572
2212-1692
DOI:10.1016/j.pedneo.2012.10.010