Article
Severe phenotype in a girl with partial tetrasomy 7, karyotype 46,XX,trp(7)(q35q36).
Cytogenetic and genome research - 1 Jan 2009
Lehnen H, Maiwald R, Neyzen S, Kohlhase J, Böhm D, Ritterbach J, Behrend C, Schwennicke G
Abstract excerpt
On prenatal ultrasonography, polyhydramnion, internal hydrocephalus, hypoplasia of the corpus callosum, and dysmorphic features were detected in a fetus of a 22-year-old mother. Subsequent karyotyping of amniocytes revealed supernumerary material in distal 7q. The baby was delivered after 38+4 weeks of gestation, and postnatal array CGH analysis showed a triplication of 7q35-->q36, resulting in partial tetrasomy....
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