We
report a case of de novo 7q interstitial deletion detected by conventional
karyotyping and by microarray of
amniotic fluid sampled during the prenatal period. A 32-year-old
pregnant woman was evaluated at our
hospital following
detection of increased
nuchal translucency at 12 weeks and 5 days of
gestation. Conventional
karyotyping revealed 46,XX,del(7)(q21q22) in 20
interphase mitotic
cells, and high-resolution microarray revealed 12.8 Mb (90,625,014-103,430,901) deletion in the region 7q21.13q22.1. Both
parents had normal
karyotypes. After
birth, the
neonate displayed several anomalies, including palatine cleft, upslanted and wide palpebral fissure, low-set
ears,
micrognathia,
microcephaly, ventriculomegaly, subglottic
tracheal stenosis,
hearing loss, and
hand/
foot deformities, including
brachydactyly,
polydactyly, and cutaneous
syndactyly. This
case study helps explain the
phenotype-
genotype relationship in
patients with 7q21.13q22.1 deletion.