Fetal ventriculomegaly due to familial submicroscopic terminal 6q deletions.
Submicroscopic terminal 6q deletions are rare. We report on two familial submicroscopic terminal 6q deletions ascertained because of prenatally detected isolated ventriculomegaly and further delineate the variable prenatal and postnatal phenotype. We review published cases of <5 Mb terminal 6q deletions.
Karin
K
Wadt
Lisa Neerup
LN
Jensen
Lise
L
Bjerglund
Majken
M
Lundstrøm
Maria
M
Kirchhoff
Susanne
S
Kjaergaard
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000502:physiology; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D014463:Ultrasonography