Terminal 6.9 Mb deletion of chromosome 15q, associated with a structurally abnormal X chromosome in a patient with congenital diaphragmatic hernia and heart defect.
We report the case of a female patient exhibiting multiple congenital malformations including diaphragmatic hernia and heart defect. Cytogenetic studies (including karyotype, FISH and array-CGH) showed a de novo terminal deletion (6.9 Mb) on chromosome 15 in association with a recombinant X chromosome bearing a 9-Mb Xp duplication and a 46-Mb Xq deletion distal to XIST. The recombinant X chromosome was caused by a maternal inv(X)(p22.31q22.3). The X chromosome inactivation pattern was skewed in the patient suggesting a possible inactivation of the recombinant X chromosome. Considering these results, the phenotype was linked to the de novo terminal 15q deletion. These results strengthen the assumption that array-CGH should be applied to each fetus/newborn with multiple congenital malformations.
Laboratoire de Cytogénétique et Biologie Cellulaire, CHU Pontchaillou, Rennes, France. sylvie.jaillard@chu-rennes.fr
Sylvie
S
Jaillard
Philippe
P
Loget
Josette
J
Lucas
Christèle
C
Dubourg
Gwenaelle
G
Le Bouar
Florence
F
Demurger
Isabelle
I
Bertorello
Véronique
V
David
Patrice
P
Poulain
Sylvie
S
Odent
Marc-Antoine
MA
Belaud-Rotureau
D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002884:Chromosomes, Human, Pair 15; D041321:Chromosomes, Human, X; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006548:Hernia, Diaphragmatic / Q000235:genetics; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007231:Infant, Newborn; D049951:X Chromosome Inactivation