Molecular characterization of a ring chromosome 15 in a fetus with intra uterine growth retardation and diaphragmatic hernia.
OBJECTIVE
To improve the phenotype-genotype correlation in terminal 15q deletions and ring chromosome 15 syndrome.


METHODS
Echographic examination of fetus. R-banded chromosome and FISH analysis on cultured amniocytes. Microsatellite analysis to determine parental origin of the ring chromosome 15. Fetal autopsy.


RESULTS
We report a new case of prenatal diagnosis of congenital diaphragmatic hernia and intrauterine growth retardation in a fetus with ring chromosome 15 involving 15q26.1-qter deletion.


CONCLUSIONS
This case support the evidence that the region 15q26.3 is implicated in intrauterine growth retardation and suggests that the 15q critical region implicated in congenital diaphragmatic hernia is localized in 15q26.1-q26.2.
Hatem
Elghezal
E
Cytogenetics and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia. hatem.elghezal@rns.tn
Meriam
Ben Rekaya
BR
Walid
Denguezli
D
Adenen
Moussa
M
Moez
Gribaa
G
Ali
Saad
S
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000196:embryology / Q000235:genetics; D000025:Abortion, Eugenic; D000328:Adult; D002884:Chromosomes, Human, Pair 15; D003937:Diagnosis, Differential; D005260:Female; D005317:Fetal Growth Retardation / Q000175:diagnosis* / Q000235:genetics; D006548:Hernia, Diaphragmatic / Q000150:complications / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012303:Ring Chromosomes