Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation.
Occipital encephalocele belongs to the family of neural tube defects, which occur in one among 2000 to 5000 live births. Syndromic encephaloceles include Meckel-Gruber syndrome and various chromosomal abnormalities. We report on a fetal case (13 WG) with bilateral cleft lip and palate, choanal atresia, occipital encephalocele, bilateral club feet, bilateral multicystic kidneys, enlarged bladder and urethral atresia. The fetal chromosome analysis showed a maternally inherited unbalanced translocation between the short arm of chromosome 1 and the long arm of chromosome 14, resulting in 1p35-pter deletion and 14q32-qter duplication (46,XY,der(1),t(1;14)(p35;q32)). Since the chromosomal breakpoints have not previously been implicated in syndromic encephalocele, this observation is of interest for the identification of other genes responsible for occipital encephalocele.
Thauvin-Robinet
C
C
Département de Génétique, Hôpital d'Enfants, Dijon, France. christel.thauvin@chu-dijon.fr
Callier
P
P
Laurent
N
N
Rousseau
T
T
Masurel-Paulet
A
A
Marle
N
N
Huet
F
F
Sagot
P
P
Faivre
L
L
Mugneret
F
F
D000028:Abortion, Induced; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D004677:Encephalocele / Q000235:genetics* / Q000473:pathology; D005260:Female; D005315:Fetal Diseases / Q000235:genetics* / Q000473:pathology; D017353:Gene Deletion; D020440:Gene Duplication; D006801:Humans; D011247:Pregnancy; D014178:Translocation, Genetic