Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development.
Complex chromosome rearrangements (CCR) are rare structural chromosome aberrations that can be found in patients with phenotypic abnormalities or in phenotypically normal patients presenting, however, recurrent miscarriages or infertility. Conventional karyotype generally allows their identification. However, molecular cytogenetic methods can reveal subtle rearrangements. We report, here, the identification of an unbalanced maternally inherited CCR in a boy with multiple congenital malformations and delayed development. High-resolution karyotype completed by molecular cytogenetic prompted us to precise the rearrangements. The healthy mother was found to carry a balanced de novo CCR that implicates four chromosomes (8, 10, 11 and 16), six breakpoints, three translocations and an insertion. The malsegregation of this CCR had led, in her son, to partial 10p12.3 to 10p14 deletion, a chromosomal region associated with the DiGeorge like phenotype.
Service de génétique médicale, hôpital l'Archet 2, CHU de Nice, 151, route de Saint-Antoine-de-Ginestière, 06202 Nice cedex 03, France. karmous-benailly.h@chu-nice.fr
Houda
H
Karmous-Benailly
Fabienne
F
Giuliano
Christophe
C
Massol
Catherine
C
Bloch
Dominique
D
De Ricaud
Jean-Claude
JC
Lambert
Serge
S
Perelman
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D014178:Translocation, Genetic