Partial trisomy 20q in a newborn with dextrocardia.


Autoria(s): Addor M.C.; Castagne C.; Micheli J.L.; Schorderet D.F.
Data(s)

2002

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