Prenatal diagnosis of a partial trisomy 7q in two fetuses with bilateral ventriculomegaly

Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia

“…Hydrocephalus, cleft palate and muscle hypotonia are common in many chromosome anomaly syndromes (Schwanitz et al, 1993) including the partial trisomy 7q syndrome (Forabosco et al, 1988;Robinet et al, 2000). Other characteristic features of the partial trisomy 7q syndrome include macrocephaly, a high forehead, frontal bossing, low set ears, downslanting palpebral fissures and strabismus (Bartsch et al, 1990;Romain et al, 1990).…”

Hypogammaglobulinemia and Silver–Russell phenotype associated with partial trisomy 7q and partial monosomy 21q

“…However, the combination of cardiac anomaly, corpus callosum dysgenesis, ventriculomegaly, and hypogammaglobulinemia have not been previously reported in SRS patients. The patient's findings including growth retardation, kyphoscoliosis, heart malformation, ventriculomegaly, inguinal hernia have been reported in cases with partial trisomy 7q [Robinet et al, 2000]. Furthermore, this patient showed some resemblance to individuals with monosomy 21, such as growth retardation, low‐set ears, prominent nose, high‐arched palate, skeletal malformations, congenital cardiac defects, and hypertonia [Wisniewski et al, 1983; Chen et al, 2006].…”

Prenatal diagnosis of cri du chat (5p‐) syndrome in association with isolated moderate bilateral ventriculomegaly

“…These involved autosomal structural rearrangements (mostly unbalanced) and aneuploidy but none of the cases reported had a deletion of the 5p. A more recent study involved prenatal diagnosis of two cases of partial trisomy 7q associated with bilateral ventriculomegaly (Robinet et al, 2000). In an attempt to assess the association of isolated mild ventriculomegaly with karyotypic abnormalities, Terry et al (2000) reviewed findings of previous investigators and quoted a significant risk.…”