Partial trisomy 20q in a newborn with dextrocardia.
Data(s) |
2002
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Resumo |
A female newborn is reported with dextrocardia and a partial trisomy 20q, derived from a t(2;20) paternal translocation. The most discriminating findings of the condition include brachycephaly, bulging forehead, deep set eyes, short nose, large ears, dimpled chin, short neck and a heart defect. Previously reported patients with this rare chromosomal anomaly are reviewed. |
Identificador |
http://serval.unil.ch/?id=serval:BIB_B780763B4BF3 isbn:1015-8146 pmid:12558114 isiid:000180532600007 |
Idioma(s) |
en |
Fonte |
Genetic Counseling, vol. 13, no. 4, pp. 433-440 |
Palavras-Chave | #Chromosomes, Human, Pair 20; Dextrocardia; Female; Humans; In Situ Hybridization, Fluorescence; Infant, Newborn; Karyotyping; Trisomy |
Tipo |
info:eu-repo/semantics/article article |