Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature.
BACKGROUND
Ultrasound examination performed on a 32-year old woman at 30 weeks' gestation showed the presence of fetal malformations. Amniocentesis was performed.


RESULTS
Cytogenetic analysis of cultured amniocytes revealed an interstitial deletion of the long arm of chromosome 5. Molecular studies confirmed that the deletion included the 5q15-21.3 region and was 14 Mb in size. Therefore, the karyotype was: 46,XY,del(5)(q15q21.3). In addition, analysis of polymorphic DNA markers showed that the deletion was of paternal origin.


CONCLUSIONS
The pregnancy was terminated at 34 weeks' gestation. At autopsy, the fetus displayed dysmorphic features, thin limbs and renal abnormalities. The clinical findings observed in the fetus as well as in 20 cases reported previously allowed us to further delineate the phenotype of such interstitial 5q15q21.3 deletions.
Malan
Valérie
V
Service de Cytogénétique et d'Embryologie, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
Martinovic
Jelena
J
Sanlaville
Damien
D
Caillat
Stéphanie
S
Waill
Marie-Christine Perrier
MC
Ganne
Marie-Laure Maurin
ML
Tantau
Julia
J
Attie-Bitach
Tania
T
Vekemans
Michel
M
Morichon-Delvallez
Nicole
N
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis