KMID : 1235920090010020256
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Medical Journal of Catholoc University of Daegu 2009 Volume.1 No. 2 p.256 ~ p.258
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A Case of Partial Trisomy 1q with Developmental Delay
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Jo Ji-Young
Km Kyung-Hye Kim Woo-Taek
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Abstract
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Partial trisomy 1q is mostly the result of an abnormal segregation of parental translocation chromosomes and their homologues. Comparative delineation of a dup 1q phenotype with regard to size and origin of the dup(1q) segment evidenced that large duplications coincide with more severe craniofacial malformations and severe mental retardation. The patient of Partial trisomy 1q41 shows various abnormalities that developmental delay, macrocephaly, large fontanelle, prominent forehead, deep-set eyes, wide and shallow nasal bridge, low-set and posteriorly rotated auricles, high arch cleft palate, and cardiac malformations. We present a 17-month-old girl with partial trisomy of the long arm of chromosome 1, 46, XX, der(14)t(1:14)(q41:p11.2), including developmental delay and mental retardation without cranofacial marformation.
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KEYWORD
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Partial trisomy, 1q, Developmental delay
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