Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes.
Two syndromes with abnormalities of the short arm of chromosome 5 have been described: cri-du-chat (resulting from 5p deletion) and trisomy 5p. We report for the first time a patient with both syndromes, resulting from a complex chromosomal rearrangement with an inverted duplication of 5p13.1-p14.2, a deletion of 5p14.2-pter, and a duplication of 5p12, characterized by array-CGH and BAC clones. The patient showed phenotypic characteristics of both syndromes and died at 3 months of age as a result of cardiorespiratory failure, probably associated with the clinical severity of the trisomy 5p syndrome. We propose a potential causative mechanism for this rearrangement.
Vera-Carbonell
Ascensión
A
Sección de Citogenética, Centro de Bioquímica y Genética Clínica, Hospital U. Virgen de la Arrixaca, El Palmar, Murcia, Spain. ascension.vera3@carm.es
Bafalliu
Juan Antonio
JA
Guillén-Navarro
Encarna
E
Escalona
Ariadna
A
Ballesta-Martínez
María J
MJ
Fuster
Carme
C
Fernández
Asunción
A
López-Expósito
Isabel
I
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D008540:Meiosis; D010641:Phenotype; D011247:Pregnancy; D013577:Syndrome; D014314:Trisomy / Q000235:genetics*