Prenatal diagnosis of deletion 11q23-->qter. Report of two unrelated cases.
Two cases of de novo deletion of the region distal to 11q23 were detected at cordocentesis, following sonographic evidence of malformations. Consistent findings in both fetuses were an abnormal amount of amniotic fluid, growth retardation, heart and renal defects. At delivery, the characteristic facial dysmorphisms of del(11q23) syndrome were also detected, including trigonocephaly, hypertelorism, abnormal slant of palpebral fissures, micrognathia and abnormal ears.
Caiola
A
A
Centro di Diagnosi Prenatale, Università la Sapienza, Roma, Italy.
Altissimi
D
D
Brinchi
V
V
Maggi
E
E
Mingarelli
R
R
D000328:Adult; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D005260:Female; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D016216:Ultrasonography, Prenatal